Table 2 Deleterious recurrent duplications in clinical cohorts

From: Using large clinical data sets to infer pathogenicity for rare copy number variants in autism 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

   
  1. Abbreviations: BP, breakpoint; OR, odds ratio; Mb, megabase.
  2. All coordinates are given in hg18. CNVs are ordered according to frequency in clinical collections.
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