Copy Number Variants 17 total CNV loci
Database updated on October 21, 2025
| Status | CNV Locus | CNV Type | Deletion Vs. Duplication | Reports | # of Case Populations | # of Case Individuals | Animal Model |
|---|---|---|---|---|---|---|---|
| 1q21.1 | Deletion-Duplication |
-435
513
| 64 | 99 | 951 | ||
| 2p16.3 | Deletion-Duplication |
-521
25
| 89 | 132 | 546 | ||
| 2q11.2 | Deletion-Duplication |
-68
96
| 24 | 43 | 164 | ||
| 3q29 | Deletion-Duplication |
-265
234
| 72 | 107 | 499 | ||
| 5q35 | Duplication |
-0
1
| 1 | 2 | 1 | ||
| 7q11.23 | Deletion-Duplication |
-253
208
| 86 | 116 | 461 | m5qG2 | |
| 8p23.1 | Deletion-Duplication |
-246
199
| 49 | 72 | 445 | ||
| 15q13.3 | Deletion-Duplication |
-97
351
| 80 | 117 | 452 | m7qC | |
| 16p11.2 | Deletion-Duplication |
-871
815
| 151 | 218 | 1696 | m7qF3 | |
| 16p12.2 | Deletion-Duplication |
-61
40
| 25 | 36 | 101 | ||
| 16p13.11 | Deletion-Duplication |
-231
496
| 79 | 113 | 740 | ||
| 16p13.3 | Deletion-Duplication |
-334
206
| 73 | 103 | 544 | ||
| 17p11.2 | Deletion-Duplication |
-181
159
| 67 | 87 | 341 | m11qB1.3-qB2 | |
| 17q11.2 | Deletion-Duplication |
-69
51
| 30 | 45 | 121 | ||
| 17q12 | Deletion-Duplication |
-259
251
| 78 | 118 | 512 | ||
| 22q11.2 | Duplication |
-3
8
| 7 | 8 | 11 | ||
| 22q13.3 | Deletion |
-14
0
| 2 | 2 | 14 |