Table 1 Deleterious recurrent deletions in clinical cohorts
Deletion region | Syndrome | Coordinates (Mb) | Cases (31 516) | Frequency | Controls (13 696) | OR | P |
|---|---|---|---|---|---|---|---|
Complete penetrance | |||||||
22q11.2 | DiGeorge/Velo-cardio-facial | chr22:17.4–18.67 | 189 | 1 in 167 | 0 | ∞ | 2.2 × 10−16 |
15q13.2-q13.3 (BP4-BP5) | chr15:28.92–30.27 | 88 | 1 in 358 | 0 | ∞ | 2.53 × 10−14 | |
7q11.23 | Williams–Beuren | chr7:72.38–73.78 | 76 | 1 in 415 | 0 | ∞ | 1.49 × 10−12 |
15q11.2-q13 (BP2-BP3) | Angelman/Prader–Willi | chr15:22.37–26.1 | 57 | 1 in 553 | 0 | ∞ | 1.79 × 10−9 |
17q21.31 | chr17:41.06–41.54 | 45 | 1 in 700 | 0 | ∞ | 1.95 × 10−7 | |
17p11.2 | Smith–Magenis | chr17:16.65–20.42 | 32 | 1 in 985 | 0 | ∞ | 1.79 × 10−5 |
22q11.2 (distal) | chr22:20.24–21.98 | 26 | 1 in 1212 | 0 | ∞ | 1.32 × 10−4 | |
8p23.1 | chr8:8.13–11.93 | 17 | 1 in 1854 | 0 | ∞ | 2.88 × 10−3 | |
5q35 | Sotos | chr5:175.65–176.99 | 16 | 1 in 1970 | 0 | ∞ | 4.81 × 10−3 |
3q29 | chr3:197.23–198.84 | 15 | 1 in 2101 | 0 | ∞ | 8.40 × 10−3 | |
10q23 | chr10:81.95–88.79 | 14 | 1 in 2251 | 0 | ∞ | 8.20 × 10−3 | |
17q11.2 | Neurofibromatosis type 1 | chr17:26.19–27.24 | 13 | 1 in 2424 | 0 | ∞ | 0.01 |
Incomplete penetrance | |||||||
16p11.2 | chr16:29.56–30.11 | 131 | 1 in 241 | 7 | 8.16 | 2.25 × 10−13 | |
1q21.1 | chr1:145.04–145.86 | 102 | 1 in 309 | 4 | 11.11 | 7.18 × 10−12 | |
16p12.1 | chr16:21.85–22.37 | 54 | 1 in 584 | 5 | 4.7 | 9.17 × 10−5 | |
16p13.11 | chr16:15.41–16.2 | 40 | 1 in 788 | 4 | 4.35 | 1.46 × 10−3 | |
17q12 | Renal cysts and diabetes | chr17:31.89–33.28 | 32 | 1 in 985 | 2 | 6.96 | 1.09 × 10−3 |
1q21(TAR) | Thrombocytopenia-absent radius | chr1:144–144.34 | 30 | 1 in 1051 | 3 | 4.35 | 6.94 × 10−3 |
16p11.2 (distal) | chr16:28.68–29.02 | 23 | 1 in 1370 | 2 | 5 | 0.01 | |
Total deletions | 1000 | 1 in 32 | |||||
