Table 4. Deleterious recurrent duplications in ASD cohorts.
| Duplication region | Coordinates (Mb) | SSC (1 124) | AGP (996) | AGRE (1 835) | Total (3 955) | Frequency | OR | P |
|---|---|---|---|---|---|---|---|---|
| 16p11.2 | chr16:29.56–30.11 | 6 (4) | 2 (1) | 2 (0) | 10 (5) | 1 in 396 | 8.68 | 1.28 × 10−4 |
| 15q11.2-q13 (BP2-BP3) | chr15:22.37–26.1 | 1 (1) | 1 (1) | 6 (2) | 8 (4) | 1 in 494 | ∞ | 6.29 × 10−6 |
| 1q21.1 | chr1:145.04–145.86 | 3 (2) | 1 (0) | 2 (0) | 6 (2) | 1 in 659 | 5.20 | 0.01 |
| 22q11.2 | chr22:17.4–18.67 | 0 | 3 (1) | 3 (1) | 6 (2) | 1 in 659 | 4.16 | 0.02 |
| 7q11.23 | chr7:72.38–73.78 | 4 (4) | 0 | 0 | 4 (4) | 1 in 989 | ∞ | 3 × 10−3 |
| 15q13.2-q13.3 (BP4-BP5) | chr15:28.92–30.27 | 1 (1) | 0 | 1 (0) | 2 (1) | 1 in 1 978 | 1.39 | 0.66 |
| 16p11.2 (distal) | chr16:28.68–29.02 | 0 | 1 (0) | 0 | 1 (0) | 1 in 3 955 | 1.15 | 1 |
| Total duplications | 15 (12) | 8 (3) | 14 (3) | 37 (18) | 1 in 107 |
Abbreviations: AGP, autism genome project; AGRE, autism genetic resource exchange; ASD, autism spectrum disorder; BP, breakpoint; OR, odds ratio; Mb, megabase; SSC, Simons foundation autism research initiative (SFARI) simplex collection.
All coordinates are given in hg18. CNVs are ordered according to frequency in ASD collections. Numbers in parentheses indicate de novo events.