Table 4 Deleterious recurrent duplications in ASD cohorts

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

  
  1. 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.
  2. All coordinates are given in hg18. CNVs are ordered according to frequency in ASD collections. Numbers in parentheses indicate de novo events.
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