ADHDgene Database
  • Published Variant
  • Published Gene: 359
  • Published Region: 128
  • Pathway by PBA: 8
  • Study: 361

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