TABLE 2.
CNVs of interest | Deletion carriers | Noncarriers | Duplication carriers |
---|---|---|---|
1q21 proximal (TAR) | 22 | 69 | |
1q21.1 distal | 34 | 25 | |
2p16.3 (NRXN1) | 1 | ||
3q29 | 1 | ||
10q11.22–23 | 5 | 1 | |
15q11.2 | 167 | 225 | |
15q11.2‐q13 | 1 | ||
16p11.2 proximal | 7 | 15 | |
16p11.2 distal | 10 | 12 | |
16p11.2 distal proximal a | 3 | 3 | |
16p12.1 | 25 | 25 | |
16p13.11 | 14 | 99 | |
17p12 | 33 | 18 | |
17q12 | 2 | 14 | |
17q21.31 | 1 | ||
22q11.2, 2.6MB | 2 | 22 | |
Noncarriers | 53,879 |
The 16p11.2 distal proximal CNV spans both the distal and proximal region.