Table 1 Rare, large CNVs (>1 Mb) identified in this study.
From: Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort
Region1 | Band | Length (bp) | CNV status2 | Patient ID | Inheritance | Recurrent3 | Candidate Gene4 |
|---|---|---|---|---|---|---|---|
de novo | |||||||
chr1:93416265-105648801 | 1p22.1-21.1 | 12,232,537 | Del | M11409 | de novo | N | 56 genes (including OLFM3) |
chr5:80564-8723219 | 5p15.33-15.2 | 8,642,656 | Del | M8820 | de novo | N | 55 genes (including SLC9A3) |
chr6:148602550-170469934 | 6q24.3-q27 | 21,867,385 | Dup | M16084 | de novo | N | 126 genes (including ARID1B) |
chr8:791912-16065839 | 8p23.3-p22 | 15,273,928 | Del | M9118 | de novo | N | 102 genes (including RP1L1/XKR6) |
chr15:19157192-26194101 | 15q11.2-q13.3 | 7,036,910 | Dup = 4 | M8145 | de novo | Y(5) | 142 gene (including UBE3A, GABRB3) |
chr15:19767013-30690437 | 15q11.2-q13.3 | 10,923,425 | Dup = 4 | M15042 | de novo | Y(5) | 162 gene (including UBE3A, GABRB3) |
chr15:20049770-30500698 | 15q11.2-q13.3 | 10,450,929 | Dup = 4 | M16079 | de novo | Y(5) | 155 gene (including UBE3A, GABRB3) |
chr15:20306549-26219673 | 15q11.2-q13.1 | 5,913,125 | Dup | M10117 | de novo | Y(5) | 119 gene (including UBE3A, GABRB3) |
chr15:20314760-26208861 | 15q11.2-q13.1 | 5,894,101 | Dup | M16147 | de novo | Y(5) | 109 gene (including UBE3A, GABRB3) |
chr15:26762141-28153539 | 15q13.1-13.2 | 1,391,399 | Del | M15147 | de novo | Y(2) | 6 genes (including APBA2) |
chr15:66041595-70362563 | 15q23 | 4,320,969 | Del | M16229 | de novo | N | 34 (including GRAMD2) |
chr16:32090048-33240087 | 16p11.2 | 1,150,040 | Dup | M8302 | de novo | N | 6 genes |
chr20:55665989-62426157 | 20q13.31-13.33 | 6,760,169 | Dup | M9118 | de novo | N | 96 genes |
chr22:46871209-49498590 | 22q13.31-13.33 | 2,627,381 | Del | M16087 | de novo | N | 40 genes (including SHANK3) |
chrX:3944205-7480499 | Xp22.33-22.31 | 3,536,295 | Del | M8590 | de novo | Y(2) | 6 genes (including NLGN4X) |
chrX:4482028-8177903 | Xp22.32-22.31 | 3,695,876 | Del | M15199 | de novo | Y(2) | 10 genes (including NLGN4X) |
inheritance unknown | |||||||
chr2:81088888-82213957 | 2p12 | 1,125,070 | Dup | M8725 | unknown | Y(2) | . |
chr3:1137041-2996663 | 3p26.3 | 1,859,623 | Dup | M8560 | unknown | Y(2) | 2 genes (including CNTN4) |
chr3:2610044-5012635 | 3p26.3-26.2 | 2,402,592 | Dup | M10120 | unknown | Y(2) | 10 genes (including CNTN4) |
chr8:2014561-3078991 | 8p23.3-23.2 | 1,064,431 | Dup | M16201 | unknown | N | 2 genes (including CSMD1) |
chr10:17559724-18663469 | 10q12.33 | 1,103,746 | Dup | M12457 | unknown | N | 7 genes (including STAM) |
Inherited | |||||||
chr2:106245033-107789242 | 2q12.2-12.3 | 1,544,210 | Dup | M16053 | paternal | N | 5 genes (including ST6GAL2) |
chr2:226225481-227298024 | 2q36.3 | 1,072,544 | Dup | M10045 | paternal | N | 1 gene (including NYAP2) |
chr2:81240319-82740470 | 2p12 | 1,500,152 | Dup | M13360 | paternal | Y(2) | . |
chr4:189683236-190687299 | 4q35.2 | 1,004,064 | Del | M11400 | paternal | N | LINC01060 |
chr5:177795689-178865875 | 5q35.3 | 1,070,187 | Dup | M10006 | paternal | N | 11 genes (including GRM6) |
chr5:24638407-26660273 | 5p14.2-14.1 | 2,021,867 | Del | M8479 | maternal | N | 1 gene (including CDH10) |
chr5:69041250-70672298 | 5q13.2 | 1,631,049 | Dup | M13395 | maternal | N | 12 genes |
chr8:112622028-114424512 | 8q23.3 | 1,802,485 | Dup | M12449 | maternal | N | 2 genes (including CSMD3) |
chr15:26798209-28156445 | 15q13.1-13.2 | 1,358,237 | Del | M12315 | maternal | Y(2) | 6 genes (including APBA2) |
chr15:32021107-33298143 | 15q14 | 1,277,037 | Dup | M11403 | maternal | N | 19 genes |
chr17:14059029-15399033 | 17p12 | 1,340,005 | Del | M8767 | maternal | N | 7 genes |
