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. 2012 Oct 9;18(10):1090–1095. doi: 10.1038/mp.2012.138

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      

Abbreviations: BP, breakpoint; OR, odds ratio; Mb, megabase.

All coordinates are given in hg18. CNVs are ordered according to frequency in clinical collections.