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Keyword:
Type:
SNP
Gene
Region
Pathway
Study(PMID)
Large-scale studies
Genome-wide Association Studies of ADHD
Genome-wide Linkage Studies of ADHD
Genome-wide CNV Analyses of ADHD
Meta-analysis Studies of ADHD
Data Summary
Published Variant
SNP:
1391
CNV:
398
Others:
173
Published Gene:
359
Published Region:
128
Pathway by PBA:
8
Study:
361
Detail ...
CNV Search Result
Search by:
All CNVs
Total result: 388
CNV ID
CytoBand
Size
Type
Inheritance
Related Genes
CNV_Elia[2010]_1
1p36.32
56802
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_2
1q44
18226
Deletion (hemizygous)
Paternal
C1orf100
C1orf100
CNV_Elia[2010]_3
1q42.3-1q43
78905
Duplication
Paternal
EDARADD
EDARADD
CNV_Elia[2010]_4
1q31.1
63911
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_5
1p36.32
205956
Duplication
Paternal
CNV_Elia[2010]_6
1q44
251640
Duplication
Paternal
HSD17B7P1
OR11L1
OR14A16
OR14K1
OR1C1
......
HSD17B7P1
OR11L1
OR14A16
OR14K1
OR1C1
OR2AJ1
OR2AK2
OR2L13
OR2L8
OR2L9P
OR2T8
OR2W3
OR2X1P
OR6R1P
OR9H1P
TRIM58
More...
CNV_Elia[2010]_7
1q31.3
168067
Duplication
Maternal
CNV_Elia[2010]_8
1q44
136435
Deletion (hemizygous)
Paternal
C1orf229
ZNF669
ZNF670
C1orf229
ZNF669
ZNF670
CNV_Elia[2010]_9
2p21
108003
Deletion (hemizygous)
Maternal
PLEKHH2
THADA
PLEKHH2
THADA
CNV_Elia[2010]_10
2p22.3
78091
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_11
2p16.1
150246
Duplication
Maternal
RTN4
RTN4
CNV_Elia[2010]_12
2q24.3
48412
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_13
2p11.2
182565
Duplication
Maternal
IMMT
MRPL35
POLR1A
PTCD3
REEP1
IMMT
MRPL35
POLR1A
PTCD3
REEP1
CNV_Elia[2010]_14
2p12
109391
Deletion (hemizygous)
Paternal
CTNNA2
CTNNA2
CNV_Elia[2010]_15
2q32.1
93043
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_16
2q34
170499
Duplication
Maternal
CNV_Elia[2010]_17
2q32.1
76323
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_18
2p23.1
38830
Deletion (hemizygous)
Paternal
EHD3
EHD3
CNV_Elia[2010]_19
2q32.1
391252
Deletion (hemizygous)
Maternal
FSIP2
FSIP2
CNV_Elia[2010]_20
2q22.1
65334
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_21
2p16.3
61549
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_22
2q22.3
111334
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_23
3p24.1
115762
Duplication
Maternal
GADL1
GADL1
CNV_Elia[2010]_24
3p26.1
13284
Deletion (hemizygous)
Paternal
GRM7
GRM7
CNV_Elia[2010]_25
3p26.3
48275
Deletion (hemizygous)
Paternal
CNTN6
CNTN6
CNV_Elia[2010]_26
3p26.3
196042
Duplication
Maternal
CNTN6
CNTN6
CNV_Elia[2010]_27
3p26.3
17178
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_28
3q26.31
127313
Deletion (hemizygous)
Paternal
NAALADL2
NAALADL2
CNV_Elia[2010]_29
3q26.31
170734
Deletion (hemizygous)
Maternal
NAALADL2
NAALADL2
CNV_Elia[2010]_30
3q26.1
50605
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_31
3q26.1
635180
Duplication
Maternal
PDCD10
SERPINI1
SERPINI2
WDR49
ZBBX
PDCD10
SERPINI1
SERPINI2
WDR49
ZBBX
CNV_Elia[2010]_32
3q13.32
41714
Deletion (hemizygous)
Paternal
B4GALT4
UPK1B
B4GALT4
UPK1B
CNV_Elia[2010]_33
3q13.32
41714
Deletion (hemizygous)
Paternal
B4GALT4
UPK1B
B4GALT4
UPK1B
CNV_Elia[2010]_34
3p12.2
653068
Duplication
Paternal
CNV_Elia[2010]_35
3p26.3
1080014
Duplication
Paternal
CHL1
CNTN6
CHL1
CNTN6
CNV_Elia[2010]_36
3p26.3
145541
Duplication
Maternal
CNV_Elia[2010]_37
3p22.1
75885
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_38
3q12.1
889166
Duplication
Paternal
COL8A1
DCBLD2
COL8A1
DCBLD2
CNV_Elia[2010]_39
4q13.3
50539
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_40
4q24
124469
Duplication
Maternal
TACR3
TACR3
CNV_Elia[2010]_41
4q13.3
90736
Deletion (hemizygous)
Maternal
MTHFD2L
MTHFD2L
CNV_Elia[2010]_42
4q28.2
63307
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_43
4q35.2
378996
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_44
4q13.3
90736
Deletion (hemizygous)
Paternal
MTHFD2L
MTHFD2L
CNV_Elia[2010]_45
4q34.1-4q34.2
221967
Duplication
Maternal
CNV_Elia[2010]_46
4q35.2
306430
Duplication
Maternal
CNV_Elia[2010]_47
4q28.3
233122
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_48
4q22.1
153395
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_49
4q32.3
64989
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_50
5p14.3
157395
Deletion (hemizygous)
Paternal
CDH12
CDH12
CNV_Elia[2010]_51
5q21.2-5q21.3
107992
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_52
5p15.1
239741
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_53
5q35.2
58780
Deletion (hemizygous)
Maternal
CPLX2
CPLX2
CNV_Elia[2010]_54
5q11.2
25916
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_55
5q21.1
120261
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_56
5q23.1
288657
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_57
5p15.2
31120
Deletion (hemizygous)
Paternal
CTNND2
CTNND2
CNV_Elia[2010]_58
5q21.3
50175
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_59
5q21.1
81776
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_60
5p15.2
385965
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_61
5p12
246241
Duplication
Maternal
GHR
SEPP1
GHR
SEPP1
CNV_Elia[2010]_62
5q21.2
466913
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_63
5q23.1
26510
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_64
6q14.3
55715
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_65
6q21
410080
Duplication
Paternal
ATG5
PRDM1
ATG5
PRDM1
CNV_Elia[2010]_66
6q26
109369
Deletion (hemizygous)
Paternal
PARK2
PARK2
CNV_Elia[2010]_67
6q26
101956
Duplication
Maternal
PARK2
PARK2
CNV_Elia[2010]_68
6q24.1
94669
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_69
6q16.3
17916
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_70
6q23.2
56980
Deletion (hemizygous)
Maternal
TCF21
TCF21
CNV_Elia[2010]_71
6p25.3-6p25.2
513783
Deletion (hemizygous)
Maternal
C6orf195
GMDS
MYLK4
C6orf195
GMDS
MYLK4
CNV_Elia[2010]_72
6q16.3
17916
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_73
6q25.1
300082
Duplication
Paternal
IYD
PPP1R14C
IYD
PPP1R14C
CNV_Elia[2010]_74
6q14.1
140636
Duplication
Paternal
CNV_Elia[2010]_75
6q22.1
157523
Deletion (hemizygous)
Paternal
FAM162B
GPRC6A
KPNA5
ZUFSP
FAM162B
GPRC6A
KPNA5
ZUFSP
CNV_Elia[2010]_76
6q27
28407
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_77
6q22.31
147606
Deletion (hemizygous)
Maternal
NKAIN2
NKAIN2
CNV_Elia[2010]_78
6p25.1-6p24.3
339325
Duplication
Paternal
RREB1
RREB1
CNV_Elia[2010]_79
6q16.3
17916
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_80
7p15.3
106406
Duplication
Paternal
TOMM7
TOMM7
CNV_Elia[2010]_81
7q33
182270
Duplication
Maternal
CHCHD3
CHCHD3
CNV_Elia[2010]_82
7p21.2
71860
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_83
7p22.2
18214
Deletion (hemizygous)
Paternal
SDK1
SDK1
CNV_Elia[2010]_84
7p21.3
50755
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_85
7q31.1
250425
Deletion (hemizygous)
Paternal
IMMP2L
IMMP2L
CNV_Elia[2010]_86
7q11.21
233226
Duplication
Maternal
CNV_Elia[2010]_87
7q21.11
226412
Deletion (hemizygous)
Maternal
SEMA3E
SEMA3E
CNV_Elia[2010]_88
7p22.2
27411
Deletion (hemizygous)
Paternal
SDK1
SDK1
CNV_Elia[2010]_89
7q36.2
135635
Deletion (hemizygous)
Maternal
DPP6
DPP6
CNV_Elia[2010]_90
7q21.13
54166
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_91
7q35
58496
Deletion (hemizygous)
Paternal
CNTNAP2
CNTNAP2
CNV_Elia[2010]_92
7p21.3
46140
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_93
7p22.2
857902
Duplication
Paternal
SDK1
SDK1
CNV_Elia[2010]_94
7q11.22
101748
Duplication
Maternal
AUTS2
AUTS2
CNV_Elia[2010]_95
7p15.1
327347
Duplication
Maternal
CHN2
CHN2
CNV_Elia[2010]_96
7p21.3
88165
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_97
8p22
15084
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_98
8q23.3
93931
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_99
8p23.3
176828
Duplication
Maternal
FBXO25
FBXO25
CNV_Elia[2010]_100
8q21.13
81130
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_101
8p11.1
54938
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_102
8p22
73745
Duplication
Paternal
NAT2
NAT2
CNV_Elia[2010]_103
8p23.3
27974
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_104
8p23.2
7745
Deletion (hemizygous)
Maternal
CSMD1
CSMD1
CNV_Elia[2010]_105
8q24.13
317525
Duplication
Maternal
KIAA0196
NSMCE2
SQLE
KIAA0196
NSMCE2
SQLE
CNV_Elia[2010]_106
8p23.1
34166
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_107
8q12.1
196680
Duplication
Paternal
CNV_Elia[2010]_108
8p23.1
65838
Deletion (hemizygous)
Paternal
MFHAS1
MFHAS1
CNV_Elia[2010]_109
8p22
109048
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_110
8p23.2
13527
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_111
8p23.1
149565
Duplication
Paternal
DEFB134
DEFB136
DEFB134
DEFB136
CNV_Elia[2010]_112
8q24.3
78877
Duplication
Maternal
CNV_Elia[2010]_113
8p23.1
149565
Deletion (hemizygous)
Paternal
DEFB134
DEFB136
DEFB134
DEFB136
CNV_Elia[2010]_114
9p24.1
9676
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_115
9p23
34521
Deletion (hemizygous)
Paternal
PTPRD
PTPRD
CNV_Elia[2010]_116
9p23
262923
Deletion (hemizygous)
Maternal
PTPRD
PTPRD
CNV_Elia[2010]_117
9p23
63300
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_118
9p21.2
151980
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_119
9p23
94061
Deletion (hemizygous)
Maternal
PTPRD
PTPRD
CNV_Elia[2010]_120
9p23
632730
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_121
9p23
177684
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_122
9p21.2
10042
Deletion (hemizygous)
Paternal
C9orf11
C9orf11
CNV_Elia[2010]_123
9p21.2
151980
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_124
9p24.3
91410
Deletion (hemizygous)
Maternal
DOCK8
DOCK8
CNV_Elia[2010]_125
9q31.1
61370
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_126
9p24.3
31633
Deletion (hemizygous)
Paternal
C9orf66
CBWD1
DOCK8
FOXD4
C9orf66
CBWD1
DOCK8
FOXD4
CNV_Elia[2010]_127
9p23
161680
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_128
9p24.3
97481
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_129
9p23
899044
Deletion (hemizygous)
Paternal
PTPRD
PTPRD
CNV_Elia[2010]_130
9p21.1
39202
Deletion (hemizygous)
Paternal
LINGO2
LINGO2
CNV_Elia[2010]_131
10q26.11
88658
Duplication
Maternal
CNV_Elia[2010]_132
10p13
112893
Duplication
Maternal
CUBN
TRDMT1
CUBN
TRDMT1
CNV_Elia[2010]_133
10q21.3
152191
Deletion (hemizygous)
Paternal
CTNNA3
CTNNA3
CNV_Elia[2010]_134
10q23.1
74635
Deletion (hemizygous)
Paternal
C10orf99
CDHR1
LRIT1
LRIT2
C10orf99
CDHR1
LRIT1
LRIT2
CNV_Elia[2010]_135
10q23.31
94407
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_136
10q21.3
130112
Deletion (hemizygous)
Paternal
CTNNA3
CTNNA3
CNV_Elia[2010]_137
10q26.2
18118
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_138
10q21.1
68724
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_139
11p12
51609
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_140
11p15.4
154626
Duplication
Maternal
OR56A1
OR56A4
OR56B4
OR56A1
OR56A4
OR56B4
CNV_Elia[2010]_141
11q11
993567
Duplication
Maternal
FAM8A2P
OR10AF1P
OR10AG1
OR10AK1P
OR2AH1P
......
FAM8A2P
OR10AF1P
OR10AG1
OR10AK1P
OR2AH1P
OR5AL1
OR5AL2P
OR5AM1P
OR5AP1P
OR5AP2
OR5AQ1P
OR5AR1
OR5AS1
OR5BE1P
OR5BN1P
OR5BN2P
OR5D13
OR5D14
OR5D15P
OR5D16
OR5D17P
OR5D18
OR5D2P
OR5D3P
OR5F1
OR5F2P
OR5I1
OR5J1P
OR5J2
OR5J7P
OR5L1
OR5L2
OR5M1
OR5M10
OR5M11
OR5M12P
OR5M13P
OR5M2P
OR5M3
OR5M4P
OR5M5P
OR5M6P
OR5M7P
OR5M8
OR5M9
OR5R1
OR5T1
OR5T2
OR5T3
OR5W1P
OR5W2
OR7E5P
OR8H1
OR8H2
OR8H3
OR8I1P
OR8I2
OR8I4P
OR8J1
OR8J2
OR8J3
OR8K1
OR8K2P
OR8K3
OR8K4P
OR8K5
OR8L1P
OR8U1
OR8V1P
OR9M1P
RPL5P29
SPRYD5
More...
CNV_Elia[2010]_142
11q14.3
82213
Deletion (hemizygous)
Maternal
GRM5
GRM5
CNV_Elia[2010]_143
11q22.3
365076
Duplication
Paternal
ACAT1
ATM
C11orf65
EXPH5
KDELC2
......
ACAT1
ATM
C11orf65
EXPH5
KDELC2
NPAT
More...
CNV_Elia[2010]_144
11p15.4
138322
Deletion (hemizygous)
Maternal
NLRP10
OR10A3
OR10A6
OR5P3
NLRP10
OR10A3
OR10A6
OR5P3
CNV_Elia[2010]_145
11p15.4
45103
Deletion (hemizygous)
Paternal
OR52M1
OR52M1
CNV_Elia[2010]_146
11q21-11q22.1
224865
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_147
11p15.4
106529
Deletion (hemizygous)
Maternal
OR10A5
OR2AG1
OR2AG2
OR6A2
OR10A5
OR2AG1
OR2AG2
OR6A2
CNV_Elia[2010]_148
12q24.31
176194
Duplication
Paternal
CNV_Elia[2010]_149
12q14.1
298360
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_150
12q21.31
208238
Duplication
Maternal
CNV_Elia[2010]_151
12q23.1
186329
Deletion (hemizygous)
Maternal
C12orf63
C12orf63
CNV_Elia[2010]_152
12p12.1
350128
Duplication
Paternal
IFLTD1
IFLTD1
CNV_Elia[2010]_153
12p13.32
159527
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_154
13q12.11
59573
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_155
13q34
499396
Duplication
Maternal
ATP11A
C13orf35
F10
F7
MCF2L
ATP11A
C13orf35
F10
F7
MCF2L
CNV_Elia[2010]_156
13q21.33
291974
Deletion (hemizygous)
Paternal
KLHL1
KLHL1
CNV_Elia[2010]_157
13q32.3
30844
Deletion (hemizygous)
Maternal
CLYBL
CLYBL
CNV_Elia[2010]_158
13q21.31
57854
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_159
13q22.1
105526
Duplication
Maternal
CNV_Elia[2010]_160
13q12.12
87776
Duplication
Paternal
SPATA13
SPATA13
CNV_Elia[2010]_161
13q31.1
114145
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_162
13q21.32
118427
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_163
13q13.3
35649
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_164
14q21.1
476512
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_165
14q31.3
47450
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_166
14q21.1-14q21.2
363262
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_167
15q21.3
145672
Duplication
Paternal
WDR72
WDR72
CNV_Elia[2010]_168
15q21.3
74699
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_169
15q21.3
61779
Deletion (hemizygous)
Paternal
UNC13C
UNC13C
CNV_Elia[2010]_170
15q21.1
194323
Deletion (hemizygous)
Paternal
DUOX1
DUOX2
DUOXA1
DUOXA2
SHF
......
DUOX1
DUOX2
DUOXA1
DUOXA2
SHF
SORD
More...
CNV_Elia[2010]_171
15q26.3
237009
Duplication
Maternal
TARSL2
TM2D3
TARSL2
TM2D3
CNV_Elia[2010]_172
15q21.1
113422
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_173
16p13.2
88255
Deletion (hemizygous)
Paternal
RBFOX1
RBFOX1
CNV_Elia[2010]_174
16q22.1
86375
Deletion (hemizygous)
Maternal
CYB5B
CYB5B
CNV_Elia[2010]_175
16q12.2
263064
Duplication
Paternal
FTO
IRX3
FTO
IRX3
CNV_Elia[2010]_176
16q23.2
42768
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_177
16q23.2
13291
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_178
16p13.12
12763
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_179
16q23.3-16q24.1
88215
Deletion (hemizygous)
Maternal
MBTPS1
SLC38A8
MBTPS1
SLC38A8
CNV_Elia[2010]_180
16p13.2
29054
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_181
16p13.2
47159
Deletion (hemizygous)
Maternal
RBFOX1
RBFOX1
CNV_Elia[2010]_182
16p13.2
83626
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_183
16q23.2
9100
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_184
16q24.1
41663
Deletion (hemizygous)
Paternal
ATP2C2
ATP2C2
CNV_Elia[2010]_185
16q23.1
36670
Deletion (hemizygous)
Maternal
ADAMTS18
ADAMTS18
CNV_Elia[2010]_186
16p13.3-16p13.2
711234
Duplication
Paternal
RBFOX1
RBFOX1
CNV_Elia[2010]_187
16q24.1
19183
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_188
16p13.13
21021
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_189
16q24.1
76283
Deletion (hemizygous)
Maternal
WFDC1
WFDC1
CNV_Elia[2010]_190
17q22
86423
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_191
17q12
1774728
Deletion (hemizygous)
Paternal
AATF
ACACA
C17orf78
DDX52
DHRS11
......
AATF
ACACA
C17orf78
DDX52
DHRS11
DUSP14
GGNBP2
HNF1B
LHX1
MIR2909
MRM1
MYO19
PIGW
RPL18AP12
RPS2P49
RPS2P50
SYNRG
TADA2A
ZNHIT3
More...
CNV_Elia[2010]_192
17q11.2
578176
Duplication
Paternal
ALOX12P1
ATAD5
BLMH
CPD
CRLF3
......
ALOX12P1
ATAD5
BLMH
CPD
CRLF3
GOSR1
KRT17P3
LRRC37BP1
RPS17P3
SH3GL1P2
SUZ12P
TBC1D29
TMIGD1
More...
CNV_Elia[2010]_193
17q22
359204
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_194
18p11.21
322166
Duplication
Maternal
CEP76
PSMG2
SLMO1
SPIRE1
CEP76
PSMG2
SLMO1
SPIRE1
CNV_Elia[2010]_195
18q21.1
215031
Duplication
Maternal
MYO5B
MYO5B
CNV_Elia[2010]_196
18q21.33
192514
Duplication
Maternal
TNFRSF11A
ZCCHC2
TNFRSF11A
ZCCHC2
CNV_Elia[2010]_197
18q23
79940
Duplication
Maternal
CNV_Elia[2010]_198
18q23
172297
Duplication
Paternal
CNV_Elia[2010]_199
18p11.21
182495
Duplication
Paternal
MC2R
MC5R
MC2R
MC5R
CNV_Elia[2010]_200
18p11.32
163441
Duplication
Maternal
YES1
YES1
CNV_Elia[2010]_201
18p11.32
67049
Deletion (hemizygous)
Paternal
COLEC12
COLEC12
CNV_Elia[2010]_202
18q22.1
193499
Deletion (hemizygous)
Paternal
CNV_Elia[2010]_203
19p13.2
42268
Deletion (hemizygous)
Paternal
EMR4P
EMR4P
CNV_Elia[2010]_204
19p13.2
44943
Deletion (hemizygous)
Paternal
EMR4P
EMR4P
CNV_Elia[2010]_205
19p12
263825
Deletion (hemizygous)
Paternal
ZNF257
ZNF676
ZNF257
ZNF676
CNV_Elia[2010]_206
19p13.2
42268
Deletion (hemizygous)
Maternal
EMR4P
EMR4P
CNV_Elia[2010]_207
19p13.3
56363
Deletion (hemizygous)
Paternal
ZNF57
ZNF77
ZNF57
ZNF77
CNV_Elia[2010]_208
19p13.2
42268
Deletion (hemizygous)
Maternal
EMR4P
EMR4P
CNV_Elia[2010]_209
20p12.2
150884
Duplication
Paternal
PAK7
PAK7
CNV_Elia[2010]_210
20p12.1
39933
Deletion (hemizygous)
Maternal
MACROD2
MACROD2
CNV_Elia[2010]_211
20q13.33
36935
Deletion (hemizygous)
Maternal
CDH4
CDH4
CNV_Elia[2010]_212
20p12.1
23026
Deletion (hemizygous)
Maternal
MACROD2
MACROD2
CNV_Elia[2010]_213
21q21.1
333431
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_214
21q11.2
575415
Duplication
Paternal
LOC441956
POTED
LOC441956
POTED
CNV_Elia[2010]_215
22q12.3
46801
Deletion (hemizygous)
Paternal
APOL3
APOL4
APOL3
APOL4
CNV_Elia[2010]_216
22q13.33
59180
Deletion (hemizygous)
Maternal
CNV_Elia[2010]_217
22q13.31
31185
Deletion (hemizygous)
Maternal
ARHGAP8
PRR5-ARHGAP8
ARHGAP8
PRR5-ARHGAP8
CNV_Elia[2010]_218
Xq27.2
132067
Duplication
Maternal
MAGEC1
MAGEC3
MAGEC1
MAGEC3
CNV_Elia[2010]_219
Xq27.3
192683
Duplication
Paternal
CNV_Elia[2010]_220
Xq21.2-Xq21.31
583972
Duplication
Maternal
CNV_Elia[2010]_221
Xp22.2
350986
Duplication
Maternal
REPS2
REPS2
CNV_Elia[2010]_222
Xp21.3
202064
Deletion (homozygous)
Maternal
CNV_Lesch[2011]_1
3q26.1
1951305
Deletion
De novo
BCHE
PDCD10
SERPINI2
WDR49
ZBBX
BCHE
PDCD10
SERPINI2
WDR49
ZBBX
CNV_Lesch[2011]_2
4q12
730000
Duplication
Paternal (affected)
KIAA0114
RASL11B
SCFD2
USP46
KIAA0114
RASL11B
SCFD2
USP46
CNV_Lesch[2011]_3
5q11.2
75620
Duplication
Maternal (affected)
PDE4D
PDE4D
CNV_Lesch[2011]_4
5q12.1
283705
Deletion
Maternal (affected)
ELOVL7
ERCC8
NDUFAF2
ELOVL7
ERCC8
NDUFAF2
CNV_Lesch[2011]_5
5q13.3
192417
Duplication
Paternal (affected)
IQGAP2
SV2C
IQGAP2
SV2C
CNV_Lesch[2011]_6
7p15.2-7p15.3
3060000
Duplication
Paternal (affected)
C7orf31
C7orf46
CBX3
CCDC126
CLK2P
......
C7orf31
C7orf46
CBX3
CCDC126
CLK2P
CYCS
DFNA5
GPNMB
HNRNPA2B1
IGF2BP3
MPP6
NFE2L3
NPVF
NPY
NUPL2
OSBPL3
RPS2P32
STK31
TRA2A
More...
CNV_Lesch[2011]_7
11q13.4
500000
Duplication
Maternal (affected, also in affected sibling)
CHCHD8
DNAJB13
FAM168A
MRPL48
PAAF1
......
CHCHD8
DNAJB13
FAM168A
MRPL48
PAAF1
PLEKHB1
RAB6A
UCP2
UCP3
More...
CNV_Lesch[2011]_8
17q25.1
930000
Duplication
Maternal (affected)
BTBD17
C17orf54
C17orf77
CD300A
CD300C
......
BTBD17
C17orf54
C17orf77
CD300A
CD300C
CD300E
CD300LB
DNAI2
GPR142
GPRC5C
KIF19
RPL38
TTYH2
More...
CNV_Lesch[2011]_9
2p25.3
280000
Duplication
Maternal (healthy)
SNTG2
TMEM18
SNTG2
TMEM18
CNV_Lesch[2011]_10
4p14
720000
Duplication
Maternal (healthy)
CNV_Lesch[2011]_11
4q26
509835
Duplication
Maternal (healthy)
ARSJ
CAMK2D
ARSJ
CAMK2D
CNV_Lesch[2011]_12
Xq12
200000
Duplication
Not determined
EDA2R
EDA2R
CNV_Lesch[2011]_13
Xq21.33
830000
Duplication
Maternal (healthy)
CNV_Lesch[2011]_14
6q16.1
216807
Deletion
De novo
CNV_Lesch[2011]_15
8q11.1
370000
Duplication
Paternal (healthy)
NCRNA00293
NCRNA00293
CNV_Lesch[2011]_16
9p21.3
119725
Deletion
Paternal (affected)
CNV_Lesch[2011]_17
12p13.31
114622
Duplication
Maternal (affected)
SLC2A14
SLC2A3
SLC2A14
SLC2A3
CNV_Williams[2010]_1
3q11.2
2344145
Gain
Maternal
EPHA6
MTRNR2L12
RPL18AP8
RPS18P6
EPHA6
MTRNR2L12
RPL18AP8
RPS18P6
CNV_Williams[2010]_2
15q13.3
882305
Gain
CHRNA7
DEPDC1P1
OTUD7A
CHRNA7
DEPDC1P1
OTUD7A
CNV_Williams[2010]_3
7q31.32-7q31.33
807966
Gain
ASB15
HYAL4
HYALP1
IQUB
LMOD2
......
ASB15
HYAL4
HYALP1
IQUB
LMOD2
NDUFA5
SPAM1
TMEM229A
WASL
More...
CNV_Williams[2010]_4
16p13.11-16p12.3
2775666
Gain
Maternal
ABCC1
ABCC6
C16orf45
FOPNL
KIAA0430
......
ABCC1
ABCC6
C16orf45
FOPNL
KIAA0430
MIR3179-2
MIR3180-2
MIR484
MPV17L
MYH11
NDE1
NOMO3
PKD1P1
PKD1P2
RPL15P20
RPL17P40
RPL7P47
XYLT1
More...
CNV_Williams[2010]_5
2p22.3
684866
Gain
BIRC6
LTBP1
TTC27
BIRC6
LTBP1
TTC27
CNV_Williams[2010]_6
8q21.2-8q21.3
2935186
Loss
Paternal
ACTBP6
ATP6V0D2
C8orf59
CA1
CA13
......
ACTBP6
ATP6V0D2
C8orf59
CA1
CA13
CA2
CA3
CNBD1
CNGB3
CPNE3
E2F5
FAM82B
GOLGA2P1
IGJP1
LRRCC1
PSKH2
RALYL
REXO1L1
REXO1L2P
REXO1L3P
REXO1L4P
REXO1L5P
REXO1L6P
REXO1L8
RPL32P4
RPL36AP31
SLC2A3P4
SLC7A13
WWP1
More...
CNV_Williams[2010]_7
17q12
1278621
Gain
Paternal
AATF
ACACA
C17orf78
DDX52
DHRS11
......
AATF
ACACA
C17orf78
DDX52
DHRS11
DUSP14
GGNBP2
HNF1B
LHX1
MIR2909
MRM1
MYO19
PIGW
RPL18AP12
RPS2P49
RPS2P50
SYNRG
TADA2A
More...
CNV_Williams[2010]_8
17q12
1276993
Loss
AATF
ACACA
C17orf78
DDX52
DHRS11
......
AATF
ACACA
C17orf78
DDX52
DHRS11
DUSP14
GGNBP2
HNF1B
LHX1
MIR2909
MRM1
RPL18AP12
RPS2P49
RPS2P50
SYNRG
TADA2A
More...
CNV_Williams[2010]_9
3p26.2
922518
Gain
Maternal
ITPR1
SETMAR
SUMF1
ITPR1
SETMAR
SUMF1
CNV_Williams[2010]_10
3p26.3
1017195
Gain
CNTN4
CNTN6
CNTN4
CNTN6
CNV_Williams[2010]_11
7q11.22
1843201
Gain
AUTS2
CALN1
RPS28P6
WBSCR17
AUTS2
CALN1
RPS28P6
WBSCR17
CNV_Williams[2010]_12
2q23.3-2q24.1
766494
Gain
Paternal
DNAJA1P2
GALNT13
RPL23AP29
RPRM
DNAJA1P2
GALNT13
RPL23AP29
RPRM
CNV_Williams[2010]_13
15q13.3
566191
Gain
CHRNA7
OTUD7A
CHRNA7
OTUD7A
CNV_Williams[2010]_14
3p26.3
552285
Gain
CNTN6
CNTN6
CNV_Williams[2010]_15
3p26.3-3p26.2
1538470
Loss
CNTN4
CRBN
IL5RA
LRRN1
MRPS10P2
......
CNTN4
CRBN
IL5RA
LRRN1
MRPS10P2
SETMAR
SUMF1
TRNT1
More...
CNV_Williams[2010]_16
16p11.2
803963
Loss
ALDOA
ASPHD1
BOLA2
BOLA2B
C16orf53
......
ALDOA
ASPHD1
BOLA2
BOLA2B
C16orf53
C16orf54
C16orf92
CD2BP2
CDIPT
CORO1A
DCTPP1
DOC2A
FAM57B
GDPD3
HIRIP3
INO80E
KCTD13
MAPK3
MAZ
MVP
MYLPF
PPP4C
PRRT2
QPRT
SEPHS2
SEZ6L2
SLX1A
SLX1B
SPN
SULT1A3
SULT1A4
TAOK2
TBC1D10B
TBX6
TMEM219
YPEL3
ZNF48
ZNF771
More...
CNV_Williams[2010]_17
1q23.3
701326
Loss
ATF6
DUSP12
FCGR2A
FCGR2B
FCGR2C
......
ATF6
DUSP12
FCGR2A
FCGR2B
FCGR2C
FCGR3A
FCGR3B
FCRLA
FCRLB
HSPA6
HSPA7
NOS1AP
OLFML2B
RPL31P11
TRNAD20P
TRNAE8
TRNAG31
TRNAG8
TRNAL3
TRNAL6
TRNAN12
TRNAN14
More...
CNV_Williams[2010]_18
4p15.2
3365040
Gain
ANAPC4
ATP5LP3
C4orf52
CCDC149
CCKAR
......
ANAPC4
ATP5LP3
C4orf52
CCDC149
CCKAR
DHX15
LGI2
MIR573
PI4K2B
RBPJ
RPS29P11
SEL1L3
SEPSECS
SLC34A2
SOD3
STIM2
TBC1D19
ZCCHC4
More...
CNV_Williams[2010]_19
3q26.31
1468793
Gain
NLGN1
NLGN1
CNV_Williams[2010]_20
16p13.11
788434
Gain
ABCC1
ABCC6
C16orf45
FOPNL
KIAA0430
......
ABCC1
ABCC6
C16orf45
FOPNL
KIAA0430
MIR484
MPV17L
MYH11
NDE1
RPL15P20
RPL17P40
More...
CNV_Williams[2010]_21
16p13.11-16p12.3
3006995
Gain
ABCC1
ABCC6
C16orf45
FOPNL
KIAA0430
......
ABCC1
ABCC6
C16orf45
FOPNL
KIAA0430
MIR3179-2
MIR3180-2
MIR484
MPV17L
MYH11
NDE1
NOMO3
PKD1P1
PKD1P2
RPL15P20
RPL17P40
RPL7P47
XYLT1
More...
CNV_Williams[2010]_22
15q13.3
593564
Gain
CHRNA7
OTUD7A
CHRNA7
OTUD7A
CNV_Williams[2010]_23
16p13.11
797807
Gain
ABCC1
ABCC6
C16orf45
FOPNL
KIAA0430
......
ABCC1
ABCC6
C16orf45
FOPNL
KIAA0430
MIR484
MPV17L
MYH11
NDE1
RPL15P20
RPL17P40
More...
CNV_Williams[2010]_24
13q21.31
503322
Loss
NFYAP1
NFYAP1
CNV_Williams[2010]_25
20p12.1
1394171
Gain
C20orf7
ESF1
GAPDHP2
ISM1
MACROD2
......
C20orf7
ESF1
GAPDHP2
ISM1
MACROD2
MRPS36P6
RPS3P1
SCYE1P
SEL1L2
SPTLC3
TASP1
TRNAE43P
More...
CNV_Williams[2010]_26
16p12.1
751397
Loss
C16orf52
CDR2
EEF2K
PDZD9
POLR3E
......
C16orf52
CDR2
EEF2K
PDZD9
POLR3E
RRN3P3
SDR42E2
TRNAL27
TRNAL7
UQCRC2
VWA3A
More...
CNV_Williams[2010]_27
4q13.1-4q13.2
675685
Gain
EPHA5
EPHA5
CNV_Williams[2010]_28
1q44
876470
Loss
Maternal
C1orf150
OR11L1
OR13G1
OR14A16
OR1C1
......
C1orf150
OR11L1
OR13G1
OR14A16
OR1C1
OR2AK2
OR2C3
OR2G2
OR2G3
OR2L13
OR2L2
OR2L3
OR2L8
OR2M2
OR2M3
OR2M4
OR2M5
OR2T12
OR2T33
OR2T8
OR2W3
OR2W5
OR6F1
TRIM58
More...
CNV_Williams[2010]_29
11p15.4
1859865
Loss
De novo
APBB1
ARFIP2
C11orf42
CCKBR
CNGA4
......
APBB1
ARFIP2
C11orf42
CCKBR
CNGA4
DCHS1
DNHD1
FAM160A2
FXC1
GVINP1
HBG2
HPX
ILK
MIR302E
MRPL17
NLRP14
OLFML1
OR10A2
OR10A4
OR10A5
OR2AG1
OR2AG2
OR2D2
OR2D3
OR52B1P
OR52B2
OR52E4
OR52E5
OR52E6
OR52E7P
OR52E8
OR52L1
OR52L2P
OR52N1
OR52N2
OR52N3P
OR52N4
OR52N5
OR52P1P
OR52Q1P
OR52U1P
OR52W1
OR52X1P
OR56A1
OR56A3
OR56A4
OR56A5
OR56A7P
OR56B1
OR56B2P
OR56B3P
OR56B4
OR6A2
PRKCDBP
RBMXL2
RPL21P94
RRP8
SMPD1
SYT9
TAF10
TPP1
TRIM22
TRIM3
TRIM34
TRIM5
TRIM6
TRIM6-TRIM34
TRIM78P
ZNF214
ZNF215
More...
CNV_Williams[2010]_30
11p11.12
705145
Gain
OR4C12
OR4C12
CNV_Williams[2010]_31
4q13.1-4q13.2
1246268
Gain
De novo
EPHA5
RPL6P10
EPHA5
RPL6P10
CNV_Williams[2010]_32
4q22.1
763128
Loss
De novo
ABCG2
FAM13A
FAM13AOS
GPRIN3
HERC3
......
ABCG2
FAM13A
FAM13AOS
GPRIN3
HERC3
HERC5
HERC6
NAP1L5
PIGY
PPM1K
RPL31P24
TIGD2
More...
CNV_Williams[2010]_33
4p15.2
1234728
Gain
Paternal
MRPL51P1
STIM2
TBC1D19
MRPL51P1
STIM2
TBC1D19
CNV_Williams[2010]_34
16p11.2
1813248
Loss
De novo
ALDOA
ASPHD1
BCKDK
BCL7C
BOLA2
......
ALDOA
ASPHD1
BCKDK
BCL7C
BOLA2
BOLA2B
C16orf53
C16orf54
C16orf92
C16orf93
CA5P
CD2BP2
CDIPT
CORO1A
CTF1
CTF2P
DCTPP1
DOC2A
FAM57B
FBRS
FBXL19
FBXL19-AS1
FUS
GDPD3
HIRIP3
HSD3B7
INO80E
ITGAL
KCTD13
KIF22
MAPK3
MAZ
MIR762
MVP
MYLPF
MYST1
ORAI3
PHKG2
PPP4C
PRR14
PRRT2
PRSS36
PRSS53
PRSS8
PYCARD
PYDC1
QPRT
RNF40
RNU7-61P
SEPHS2
SEPT1
SETD1A
SEZ6L2
SLC7A5P1
SLX1A
SLX1B
SNORA30
SPN
SRCAP
STX1B
STX4
SULT1A3
SULT1A4
TAOK2
TBC1D10B
TBX6
TMEM219
TRIM72
VKORC1
YPEL3
ZG16
ZNF48
ZNF629
ZNF646
ZNF668
ZNF688
ZNF689
ZNF747
ZNF764
ZNF768
ZNF771
ZNF785
More...
CNV_Williams[2010]_35
20p13
803887
Loss
De novo
ADAM33
ATRN
C20orf194
C20orf27
C20orf29
......
ADAM33
ATRN
C20orf194
C20orf27
C20orf29
CDC25B
CENPB
DDRGK1
FASTKD5
GFRA4
HSPA12B
ITPA
MAVS
PANK2
ProSAPiP1
SIGLEC1
SLC4A11
SPEF1
UBOX5
More...
CNV_Williams[2010]_36
8p12
1048699
Gain
CYCSP3
RPL10AP3
RPL6P22
VENTXP5
CYCSP3
RPL10AP3
RPL6P22
VENTXP5
CNV_Williams[2010]_37
22q11.23
1306306
Gain
ADORA2A
C22orf13
C22orf15
C22orf36
C22orf43
......
ADORA2A
C22orf13
C22orf15
C22orf36
C22orf43
CABIN1
CHCHD10
DDTL
DERL3
GGT1
GGT5
GSTT1
GSTT2
GSTT2B
IGLL1
MIF
MMP11
RGL4
SLC2A11
SMARCB1
SNRPD3
SPECC1L
SUSD2
UPB1
VPREB3
ZNF70
More...
CNV_Williams[2010]_38
3q26.1
1574775
Loss
C3orf57
NMD3
OTOL1
C3orf57
NMD3
OTOL1
CNV_Williams[2010]_39
16p11.2
1813247
Gain
ALDOA
ASPHD1
BCKDK
BCL7C
BOLA2
......
ALDOA
ASPHD1
BCKDK
BCL7C
BOLA2
BOLA2B
C16orf53
C16orf54
C16orf92
C16orf93
CD2BP2
CDIPT
CORO1A
CTF1
DCTPP1
DOC2A
FAM57B
FBRS
FBXL19
FUS
GDPD3
HIRIP3
HSD3B7
INO80E
ITGAL
KCTD13
MAPK3
MAZ
MVP
MYLPF
MYST1
ORAI3
PHKG2
PPP4C
PRR14
PRRT2
PRSS36
PRSS53
PRSS8
PYCARD
PYDC1
QPRT
RNF40
SEPHS2
SETD1A
SEZ6L2
SLX1A
SLX1B
SPN
SRCAP
STX1B
STX4
SULT1A3
SULT1A4
TAOK2
TBC1D10B
TBX6
TMEM219
TRIM72
VKORC1
YPEL3
ZNF48
ZNF629
ZNF646
ZNF668
ZNF688
ZNF689
ZNF747
ZNF764
ZNF768
ZNF771
ZNF785
More...
CNV_Williams[2010]_40
11q25
880460
Gain
ACAD8
B3GAT1
GLB1L2
GLB1L3
NCAPD3
......
ACAD8
B3GAT1
GLB1L2
GLB1L3
NCAPD3
THYN1
VPS26B
More...
CNV_Williams[2010]_41
11q13.2
1167044
Gain
CPT1A
GAL
IFITM9P
IGHMBP2
LRP5
......
CPT1A
GAL
IFITM9P
IGHMBP2
LRP5
MIR3164
MRGPRD
MRGPRF
MRPL21
MTL5
MYEOV
PPP6R3
TPCN2
More...
CNV_Williams[2010]_42
16p13.11
809654
Gain
ABCC1
ABCC6
C16orf45
FOPNL
KIAA0430
......
ABCC1
ABCC6
C16orf45
FOPNL
KIAA0430
MIR484
MPV17L
MYH11
NDE1
RPL15P20
RPL17P40
More...
CNV_Williams[2010]_43
4q13.3-4q21.1
1076977
Gain
Paternal
BTC
C4orf26
CDKL2
G3BP2
NAAA
......
BTC
C4orf26
CDKL2
G3BP2
NAAA
PARM1
PPEF2
RCHY1
THAP6
USO1
More...
CNV_Williams[2010]_44
15q13.3-15q14
1871368
Gain
Maternal
ARHGAP11A
AVEN
C15orf24
C15orf29
C15orf55
......
ARHGAP11A
AVEN
C15orf24
C15orf29
C15orf55
CHRM5
FMN1
GOLGA8A
GREM1
LPCAT4
MIR1233-1
NOP10
PGBD4
RPL32P2
RYR3
SCG5
SLC12A6
TMCO5B
TMEM85
More...
CNV_Williams[2010]_45
1q43
1739833
Gain
CHRM3
KRT18P32
MIPEPP2
MTRNR2L11
RPL39P10
......
CHRM3
KRT18P32
MIPEPP2
MTRNR2L11
RPL39P10
RYR2
TRNAL45P
TRNAP23P
ZP4
More...
CNV_Williams[2010]_46
15q11.2-15q13.1
4933636
Gain
ATP10A
C15orf2
FAM18B3P
GABRA5
GABRB3
......
ATP10A
C15orf2
FAM18B3P
GABRA5
GABRB3
GABRG3
GOLGA6L2
HERC2P6
IPW
MAGEL2
MKRN3
MRPS18CP5
NDN
OCA2
PWRN1
PWRN2
RPL5P1
RPL5P32
RPL9P26
RPS27P2
SNORD107
SNORD108
SNORD109A
SNORD109B
SNORD115@
SNORD115-1
SNORD115-10
SNORD115-11
SNORD115-12
SNORD115-13
SNORD115-14
SNORD115-15
SNORD115-16
SNORD115-17
SNORD115-18
SNORD115-19
SNORD115-2
SNORD115-20
SNORD115-21
SNORD115-22
SNORD115-23
SNORD115-24
SNORD115-25
SNORD115-26
SNORD115-29
SNORD115-3
SNORD115-30
SNORD115-31
SNORD115-32
SNORD115-33
SNORD115-34
SNORD115-35
SNORD115-36
SNORD115-37
SNORD115-38
SNORD115-39
SNORD115-4
SNORD115-40
SNORD115-41
SNORD115-42
SNORD115-43
SNORD115-44
SNORD115-48
SNORD115-5
SNORD115-6
SNORD115-7
SNORD115-8
SNORD115-9
SNORD116@
SNORD116-1
SNORD116-10
SNORD116-11
SNORD116-12
SNORD116-13
SNORD116-14
SNORD116-15
SNORD116-16
SNORD116-17
SNORD116-18
SNORD116-19
SNORD116-2
SNORD116-20
SNORD116-21
SNORD116-22
SNORD116-23
SNORD116-24
SNORD116-25
SNORD116-26
SNORD116-27
SNORD116-28
SNORD116-29
SNORD116-3
SNORD116-4
SNORD116-5
SNORD116-6
SNORD116-7
SNORD116-8
SNORD116-9
SNORD64
SNRPN
SNURF
TRNAE11
UBE3A
More...
CNV_Williams[2010]_47
15q13.1-15q13.2
1140363
Gain
APBA2
FAM189A1
NDNL2
TJP1
APBA2
FAM189A1
NDNL2
TJP1
CNV_Williams[2010]_48
4q32.2
631873
Loss
RPS14P7
RPS14P7
CNV_Williams[2010]_49
6q22.33-6q23.1
1646633
Gain
ARHGAP18
C6orf191
L3MBTL3
LAMA2
PTPRK
......
ARHGAP18
C6orf191
L3MBTL3
LAMA2
PTPRK
SAMD3
More...
CNV_Williams[2010]_50
3q29
741671
Gain
ATP13A4
HES1
OPA1
ATP13A4
HES1
OPA1
CNV_Williams[2010]_51
15q13.1-15q13.2
1153301
Gain
APBA2
FAM189A1
HMGN2P5
NDNL2
SYNGR2P1
......
APBA2
FAM189A1
HMGN2P5
NDNL2
SYNGR2P1
TJP1
More...
CNV_Williams[2010]_52
15q13.3
512271
Gain
CHRNA7
CHRNA7
CNV_Williams[2010]_53
16p13.11
809654
Gain
De novo
ABCC1
ABCC6
C16orf45
FOPNL
KIAA0430
......
ABCC1
ABCC6
C16orf45
FOPNL
KIAA0430
MIR484
MPV17L
MYH11
NDE1
RPL15P20
RPL17P40
More...
CNV_Williams[2010]_54
8q21.3
1139681
Gain
Maternal
MMP16
MMP16
CNV_Williams[2010]_55
3p26.3
561301
Gain
CNTN6
CNTN6
CNV_Williams[2010]_56
14q21.1
578113
Loss
CNV_Williams[2010]_57
2q11.2
684637
Gain
CHST10
LOC643896
LONRF2
NMS
NPAS2
......
CHST10
LOC643896
LONRF2
NMS
NPAS2
PDCL3
More...
CNV_Elia[2012]_1
11q14.3
82213
Del
4:1:3(62.5%)
GRM5
GRM5
CNV_Elia[2012]_2
7q31.33
179909
Del
0:1:0(100%)
GRM8
MIR592
GRM8
MIR592
CNV_Elia[2012]_3
3p26.1
13284
Del
0:2:0(100%)
GRM7
GRM7
CNV_Elia[2012]_4
6q24.3
36972
Dup
2:0:0(100%)
GRM1
GRM1
CNV_Elia[2012]_5
1p31.1
11104
Dup
0:3:0(100%)
NEGR1
NEGR1
CNV_Elia[2012]_6
7q36.2
69230
Dup
1:2:0(100%)
DPP6
DPP6
CNV_Elia[2012]_7
5q12.3
18545
Del
2:0:2(50%)
NLN
SGTB
NLN
SGTB
CNV_Elia[2012]_8
1p32.3
10999
Del
1:0:3(25%)
USP24
USP24
CNV_Elia[2012]_9
19q13.11
17115
Del
2:2:1(80%)
SLC7A10
SLC7A10
CNV_Elia[2012]_10
3p26.3
15722
Del
2:4:0(100%)
CNTN4
CNTN4
CNV_Elia[2012]_11
2p12
26786
Dup
1:0:1(50%)
CTNNA2
CTNNA2
CNV_Elia[2012]_12
4q25
16245
Dup
0:0:0(NA)
C4orf21
LARP7
MIR367
C4orf21
LARP7
MIR367
CNV_Elia[2012]_13
19p13.12
5245
Del
LOC126536
LOC126536
CNV_Elia[2012]_14
22q13.1
19358
Del
CACNA1I
CACNA1I
CNV_Elia[2012]_15
17q25.1
8249
Del
MYO15B
MYO15B
CNV_Elia[2012]_16
12q13.3
21581
Del
NDUFA4L2
NXPH4
SHMT2
STAC3
NDUFA4L2
NXPH4
SHMT2
STAC3
CNV_Elia[2012]_17
19q13.42
4642
Dup
LILRA6
LILRB3
RPS9
LILRA6
LILRB3
RPS9
CNV_Elia[2012]_18
16q24.3
83789
Del
ACSF3
CDH15
LOC283860
NCRNA00304
ACSF3
CDH15
LOC283860
NCRNA00304
CNV_Elia[2012]_19
18q22.2
8788
Del
DOK6
DOK6
CNV_Jarick[2012]_1
1p13.3
578639
dup
AKNAD1
C1orf194
CELSR2
CLCC1
GPSM2
......
AKNAD1
C1orf194
CELSR2
CLCC1
GPSM2
KIAA1324
MYBPHL
NDUFB3P1
PSRC1
RPL17P7
RPS27P6
SARS
SCARNA2
SORT1
STXBP3
TAF13
TMEM167B
WDR47
More...
CNV_Jarick[2012]_2
1q21.1
1350133
del
ACP6
BCL9
CCT8P1
CHD1L
FAM108A2
......
ACP6
BCL9
CCT8P1
CHD1L
FAM108A2
FMO5
GJA5
GJA8
GPR89B
NBPF13P
NBPF24
OR13Z1P
OR13Z2P
OR13Z3P
PDIA3P
PDZK1P2
PRKAB2
RNU1-6
RPL7AP15
TRNAE32P
TRNAE34P
TRNAH10
TRNAH7
TRNAH9
TRNAN19
TRNAN26
TRNAQ13
TRNAQ26
TRNAQ3
TRNAQ51P
TRNAQ8
TRNAR31P
More...
CNV_Jarick[2012]_3
2p24.3
549042
dup
NCRNA00276
NCRNA00276
CNV_Jarick[2012]_4
2p12
1306771
dup
CTNNA2
CYCSP6
MIR4264
REG1A
REG1B
......
CTNNA2
CYCSP6
MIR4264
REG1A
REG1B
REG1P
REG3A
REG3G
More...
CNV_Jarick[2012]_5
2q21.1
752509
dup
ARHGEF4
CYCSP8
FAM123C
FAM168B
GNAQP1
......
ARHGEF4
CYCSP8
FAM123C
FAM168B
GNAQP1
GPR148
MZT2A
NEK2P4
NF1P8
PLEKHB2
POTEE
RHOQP2
TRNAQ36P
TRNAS31P
TUBA3D
More...
CNV_Jarick[2012]_6
3p26.3
1063962
del
CHL1
RPS8P6
CHL1
RPS8P6
CNV_Jarick[2012]_7
3p26.3
898395
del
CNTN6
CNTN6
CNV_Jarick[2012]_8
3q23
658644
dup
CLSTN2
NMNAT3
CLSTN2
NMNAT3
CNV_Jarick[2012]_9
3q26.31
656205
del
NAALADL2
UBE2V1P2
NAALADL2
UBE2V1P2
CNV_Jarick[2012]_10
4p15.1
1231062
dup
PCDH7
PCDH7
CNV_Jarick[2012]_11
4q26
1261637
dup
KRT18P21
MIR1973
MTRNR2L13
RLFP1
KRT18P21
MIR1973
MTRNR2L13
RLFP1
CNV_Jarick[2012]_12
4q32.3
993204
del
SPOCK3
SPOCK3
CNV_Jarick[2012]_13
5q33.2-5q33.3
836393
del
PPP1R2P3
SGCD
TIMD4
PPP1R2P3
SGCD
TIMD4
CNV_Jarick[2012]_14
5q35.3
2340579
dup
AACSP1
ADAMTS2
BTNL3
BTNL8
BTNL9
......
AACSP1
ADAMTS2
BTNL3
BTNL8
BTNL9
C5orf45
C5orf60
CANX
CBY3
CNOT6
FLT4
FOXO1B
GFPT2
GRM6
HMGB3P22
HNRNPH1
LTC4S
MAML1
MAPK9
MGAT1
MGAT4B
MIR1229
MIR340
OR2AI1P
OR2V1
OR2Y1
PIGFP1
RASGEF1C
RNF130
RPL13P10
RPS15AP18
RPS29P12
RPS8P7
RUFY1
SCGB3A1
SQSTM1
TBC1D9B
TRNAL24
TRNAL34
TRNAV2
TRNAV9
ZFP2
ZFP62
ZNF354B
ZNF354C
ZNF454
ZNF879
More...
CNV_Jarick[2012]_15
6q24.1
1194331
dup
RPS18P10
RPS3AP23
RPS18P10
RPS3AP23
CNV_Jarick[2012]_16
7q11.21
661395
dup
PHKG1P1
SEPT7P4
PHKG1P1
SEPT7P4
CNV_Jarick[2012]_17
7q11.21
655331
dup
PHKG1P1
PHKG1P1
CNV_Jarick[2012]_18
7q22.3
756661
dup
COG5
HBP1
PIK3CG
PRKAR2B
COG5
HBP1
PIK3CG
PRKAR2B
CNV_Jarick[2012]_19
7q31.33
816560
del
CNV_Jarick[2012]_20
9q31.1-9q31.2
572275
dup
ABCA1
SLC44A1
ABCA1
SLC44A1
CNV_Jarick[2012]_21
10p12.33-10p12.32
634604
del
C10orf112
C10orf112
CNV_Jarick[2012]_22
10q11.23-10q21.1
919773
del
CSTF2T
MIR605
PRKG1
CSTF2T
MIR605
PRKG1
CNV_Jarick[2012]_23
10q26.3
2830749
del
ADAM8
BNIP3
C10orf125
C10orf91
C10orf92
......
ADAM8
BNIP3
C10orf125
C10orf91
C10orf92
C10orf93
CALY
CYP2E1
DPYSL4
ECHS1
GPR123
INPP5A
JAKMIP3
KNDC1
LRRC27
MIR202
MIR378C
MTG1
NKX6-2
OR6L1P
OR6L2P
OR7M1P
PAOX
PPP2R2D
PRAP1
PWWP2B
RPL5P28
SPRN
SPRNP1
STK32C
SYCE1
TCERG1L
TUBGCP2
UTF1
VENTX
ZNF511
More...
CNV_Jarick[2012]_24
11p11.12
648651
dup
PHKG1P3
TRNAA25
PHKG1P3
TRNAA25
CNV_Jarick[2012]_25
12p11.1
1277190
dup
ALG10
ST13P9
SYT10
ALG10
ST13P9
SYT10
CNV_Jarick[2012]_26
12q24.31-12q24.32
2139929
dup
AACS
ATP6V0A2
BRI3BP
CCDC92
DDX55
......
AACS
ATP6V0A2
BRI3BP
CCDC92
DDX55
DHX37
DNAH10
EIF2B1
FAM101A
GTF2H3
NCOR2
RILPL1
RILPL2
RPL22P19
RPL27P12
SCARB1
SNRNP35
TCTN2
TMED2
TMEM132B
TRNAA23
TRNAA32
TRNAD15
TRNAD16
TRNAF2
UBC
ZNF664
More...
CNV_Jarick[2012]_27
12q24.32-12q24.33
676004
dup
TMEM132D
TMEM132D
CNV_Jarick[2012]_28
13q31.1-13q31.2
768144
del
TXNL1P1
TXNL1P1
CNV_Jarick[2012]_29
15q13.1-15q13.2
937160
dup
APBA2
FAM189A1
HMGN2P5
NDNL2
SYNGR2P1
......
APBA2
FAM189A1
HMGN2P5
NDNL2
SYNGR2P1
TJP1
More...
CNV_Jarick[2012]_30
15q13.2-15q13.3
1504836
dup
CHRNA7
DEPDC1P1
FAN1
KLF13
MIR211
......
CHRNA7
DEPDC1P1
FAN1
KLF13
MIR211
MTMR10
OTUD7A
TRPM1
More...
CNV_Jarick[2012]_31
16p13.11
1164092
del
ABCC1
ABCC6
C16orf45
FOPNL
KIAA0430
......
ABCC1
ABCC6
C16orf45
FOPNL
KIAA0430
MIR484
MPV17L
MYH11
NDE1
NTAN1
PDXDC1
PKD1P6
RPL15P20
RPL17P40
RRN3
More...
CNV_Jarick[2012]_32
16p13.11
1162643
dup
ABCC1
ABCC6
C16orf45
FOPNL
KIAA0430
......
ABCC1
ABCC6
C16orf45
FOPNL
KIAA0430
MIR484
MPV17L
MYH11
NDE1
NTAN1
PDXDC1
PKD1P6
RPL15P20
RPL17P40
RRN3
More...
CNV_Jarick[2012]_33
16p13.11
809654
del
ABCC1
ABCC6
C16orf45
FOPNL
KIAA0430
......
ABCC1
ABCC6
C16orf45
FOPNL
KIAA0430
MIR484
MPV17L
MYH11
NDE1
RPL15P20
RPL17P40
More...
CNV_Jarick[2012]_34
16p12.3
770826
dup
RPL7P47
XYLT1
RPL7P47
XYLT1
CNV_Jarick[2012]_35
16p11.2
530466
del
ALDOA
ASPHD1
C16orf53
C16orf54
C16orf92
......
ALDOA
ASPHD1
C16orf53
C16orf54
C16orf92
CA5P
CDIPT
DOC2A
FAM57B
GDPD3
HIRIP3
INO80E
KCTD13
KIF22
MAPK3
MAZ
MVP
PPP4C
PRRT2
QPRT
SEZ6L2
SPN
TAOK2
TBX6
TMEM219
YPEL3
ZG16
More...
CNV_Jarick[2012]_36
16q23.3-16q24.1
589595
dup
ADAD2
CDH13
DNAAF1
HSBP1
HSDL1
......
ADAD2
CDH13
DNAAF1
HSBP1
HSDL1
MBTPS1
MLYCD
NECAB2
OSGIN1
SLC38A8
TAF1C
More...
CNV_Jarick[2012]_37
16q24.1
751889
dup
ATP2C2
COTL1
CRISPLD2
KIAA0513
KIAA1609
......
ATP2C2
COTL1
CRISPLD2
KIAA0513
KIAA1609
KLHL36
USP10
WFDC1
ZDHHC7
More...
CNV_Jarick[2012]_38
17q25.1
695564
dup
BTBD17
C17orf77
CD300A
CD300C
CD300E
......
BTBD17
C17orf77
CD300A
CD300C
CD300E
CD300LB
CD300LD
DNAI2
GPR142
GPRC5C
KIF19
RPL38
TTYH2
More...
CNV_Jarick[2012]_39
18q22.1
2398117
del
CDH19
DSEL
FAM32D
RPL31P9
CDH19
DSEL
FAM32D
RPL31P9
CNV_Jarick[2012]_40
22q11.21
2534567
dup
AIFM3
ARVCF
BCRP2
BCRP5
C22orf25
......
AIFM3
ARVCF
BCRP2
BCRP5
C22orf25
C22orf29
C22orf39
CDC45
CLDN5
CLTCL1
COMT
CRKL
DGCR10
DGCR11
DGCR14
DGCR2
DGCR5
DGCR6
DGCR6L
DGCR8
DGCR9
DVL1L1
FAM108A5P
GGTLC3
GGTLC5P
GNB1L
GP1BB
GSC2
HIRA
IGLL4P
KLHL22
KRT18P5
LZTR1
MED15
MIR1286
MIR1306
MIR185
MIR649
MRPL40
P2RX6
P2RX6P
PI4KA
PI4KAP1
POM121L4P
PRODH
RANBP1
RIMBP3
RPL34P35
RPL7AP70
RPL8P5
RTN4R
SCARF2
SEPT5
SERPIND1
SLC25A1
SLC7A4
SLC9A3P2
SMPD4P1
SNAP29
SUSD2P2
TBX1
THAP7
TMEM191A
TMEM191B
TRMT2A
TSSK1A
TSSK2
TXNRD2
UFD1L
USP41
ZDHHC8
ZNF74
More...
CNV_Jarick[2012]_41
22q11.21
2176334
dup
AIFM3
ARVCF
BCRP2
BCRP5
C22orf25
......
AIFM3
ARVCF
BCRP2
BCRP5
C22orf25
C22orf29
C22orf39
CDC45
CLDN5
CLTCL1
COMT
CRKL
DGCR6L
DGCR8
DVL1L1
FAM108A5P
GGTLC3
GGTLC5P
GNB1L
GP1BB
HIRA
IGLL4P
KLHL22
KRT18P5
LZTR1
MED15
MIR1286
MIR1306
MIR185
MIR649
MRPL40
P2RX6
P2RX6P
PI4KA
PI4KAP1
POM121L4P
RANBP1
RIMBP3
RPL7AP70
RPL8P5
RTN4R
SCARF2
SEPT5
SERPIND1
SLC7A4
SLC9A3P2
SMPD4P1
SNAP29
SUSD2P2
TBX1
THAP7
TMEM191A
TMEM191B
TRMT2A
TXNRD2
UFD1L
USP41
ZDHHC8
ZNF74
More...
CNV_Jarick[2012]_42
22q11.21
726039
dup
AIFM3
BCRP2
BCRP5
CRKL
FAM108A5P
......
AIFM3
BCRP2
BCRP5
CRKL
FAM108A5P
IGLL4P
KLHL22
KRT18P5
LZTR1
MED15
MIR649
P2RX6
P2RX6P
PI4KA
POM121L4P
SCARF2
SERPIND1
SLC7A4
SLC9A3P2
SMPD4P1
SNAP29
THAP7
TMEM191A
USP41
ZNF74
More...
CNV_Jarick[2012]_43
6q26
247227
del
PARK2
PARK2
CNV_Jarick[2012]_44
6q26
305332
dup
PARK2
PARK2
CNV_Jarick[2012]_45
6q26
172278
dup
PARK2
PARK2
CNV_Jarick[2012]_46
6q26
185689
dup
PARK2
PARK2
CNV_Jarick[2012]_47
6q26
190740
dup
PARK2
PARK2
CNV_Jarick[2012]_48
6q26
160381
dup
PARK2
PARK2
CNV_Jarick[2012]_49
6q26
101516
del
PARK2
PARK2
CNV_Jarick[2012]_50
6q26
208358
del
PARK2
PARK2
CNV_Lionel[2011]_1
4q31.3
33
Loss
D
DCLK2
DCLK2
CNV_Lionel[2011]_2
10q25.1
242
Gain
D
SORCS3
SORCS3
CNV_Lionel[2011]_3
10q25.1
318
Gain
D
CNV_Lionel[2011]_4
20p12.1
109
Loss
D
MACROD2
MACROD2
CNV_Lionel[2011]_5
4p16.1
482
Gain
P
DRD5
SLC2A9
WDR1
DRD5
SLC2A9
WDR1
CNV_Lionel[2011]_6
5q35.2
131
Gain
M
CPLX2
CPLX2
CNV_Lionel[2011]_7
7q32.3
159
Gain
M
CHCHD3
CHCHD3
CNV_Lionel[2011]_8
7q36.3
1023
Gain
M
ESYT2
NCAPG2
PTPRN2
WDR60
ESYT2
NCAPG2
PTPRN2
WDR60
CNV_Lionel[2011]_9
11q13.4
147
Gain
U
CNV_Lionel[2011]_10
15q13
3666
Gain
M
CNV_Lionel[2011]_11
16p11.2
789
Gain
P
CNV_Lionel[2011]_12
3q26.1
165
Loss
P
ZBBX
ZBBX
CNV_Lionel[2011]_13
3q26.1
22
Loss
U
ZBBX
ZBBX
CNV_Lionel[2011]_14
6p24.2
262
Gain
M
C6orf218
GCNT2
TFAP2A
C6orf218
GCNT2
TFAP2A
CNV_Lionel[2011]_15
6p24.2
92
Loss
M
GCNT2
GCNT2
CNV_Lionel[2011]_16
9q33.1
177
Loss
P
ASTN2
TRIM32
ASTN2
TRIM32
CNV_Lionel[2011]_17
9q33.1
148
Loss
U
ASTN2
TRIM32
ASTN2
TRIM32
CNV_Lionel[2011]_18
20p12.1
542
Loss
M
FLRT3
MACROD2
FLRT3
MACROD2
CNV_Lionel[2011]_19
4p16
97
Loss
M
STK32B
STK32B
CNV_Lionel[2011]_20
4p12
64
Loss
M
GABRG1
GABRG1
CNV_Lionel[2011]_21
11q22.1
49
Loss
P
CNTN5
CNTN5
CNV_Lionel[2011]_22
12q24.33
211
Gain
P
ANKLE2
PGAM5
POLE
PXMP2
ANKLE2
PGAM5
POLE
PXMP2
CNV_Lionel[2011]_23
Xp22.11
388
Loss
M
DDX53
PTCHD1
DDX53
PTCHD1