Table 3.
CNVs in well-established autism candidate regions
| Position (hg18) | Cytoband | CNV type | Family | Inheritance | Affected siblings with CNVa | Unaffected siblings with CNVb |
|---|---|---|---|---|---|---|
| chr1:144970329–145863421 | 1q21.1 | Duplication | 7804 | De novo | 1/2 | 0/0 |
| 17331 | Paternal | 1/2 | 0/0 | |||
| chr7:72355583–73778518 | 7q11.23 | Duplication | 37426 | Maternal | 2/2 | 0/0 |
| chr15:26998850–28157296 | 15q13.1 | Deletion | 17630 | Maternal | 2/2 | 0/0 |
| chr15:26849239–28157206 | 15q13.1 | Deletion | 7486 | Maternal | 1/1 | 0/2 |
| chr15:21200234–26208861 | 15q11–13 | Duplication | 18054 | De novo | 1/1 | 0/0 |
| 7791 | Maternal | 1/2 | 0/1 | |||
| chr16:29554844–30085308 | 16p11.2 | Duplication | 7740 | De novo | 1/2 | 0/0 |
| 17416 | Paternal | 1/1 | 0/0 | |||
| chr16:29554844–30085308 | 16p11.2 | Deletion | 3574 | De novo | 1/1 | 0/0 |
| chr17:17169258–20101517 | 17p11.2 | Deletion | 3586 | De novo | 1/1 | 0/0 |
| chr22: 45159186–49562479 | 22q13.3 | Deletion | 3524 | De novo | 2/2 | 0/0 |
| chr22: 19063496–19363371 | 22q11.21 | Duplication | 17164 | De novo | 1/1 | 0/1 |
aNumber of affected siblings in the family with the CNV/total affected siblings.
bNumber of unaffected siblings in the family with the CNV/total unaffected siblings.