Table 2. Deleterious recurrent duplications in clinical cohorts.
| Duplication region | Syndrome | Coordinates (Mb) | Cases (31 516) | Frequency | Controls (13 696) | OR | P |
|---|---|---|---|---|---|---|---|
| Complete penetrance | |||||||
| 15q11.2-q13 (BP2-BP3) | chr15:22.37–26.1 | 62 | 1 in 508 | 0 | ∞ | 2.38 × 10−10 | |
| 7q11.23 | chr7:72.38–73.78 | 32 | 1 in 985 | 0 | ∞ | 1.79 × 10−5 | |
| 17p11.2 | Potocki-Lupski | chr17:16.65–20.42 | 24 | 1 in 1313 | 0 | ∞ | 0.00 |
| 8p23.1 | chr8:8.13–11.93 | 13 | 1 in 2424 | 0 | ∞ | 0.01 | |
| 22q11.2 (distal) | chr22:20.24–21.98 | 11 | 1 in 2865 | 0 | ∞ | 0.04 | |
| Incomplete penetrance | |||||||
| 22q11.2 | chr22:17.4–18.67 | 82 | 1 in 384 | 5 | 7.14 | 2.69 × 10−8 | |
| 16p11.2 | chr16:29.56–30.11 | 67 | 1 in 470 | 4 | 7.29 | 4.19 × 10−7 | |
| 1q21.1 | chr1:145.04–145.86 | 54 | 1 in 584 | 4 | 5.87 | 2.17 × 10−5 | |
| 17q12 | chr17:31.89–33.28 | 39 | 1 in 808 | 6 | 2.83 | 0.01 | |
| 15q13.2-q13.3 (BP4-BP5) | chr15:28.92–30.27 | 34 | 1 in 927 | 5 | 2.96 | 0.01 | |
| 16p11.2 (distal) | chr16:28.68–29.02 | 25 | 1 in 1261 | 3 | 3.62 | 0.02 | |
| Total duplications | 443 | 1 in 71 | |||||
Abbreviations: BP, breakpoint; OR, odds ratio; Mb, megabase.
All coordinates are given in hg18. CNVs are ordered according to frequency in clinical collections.