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Table 1 Summary of CNV loci included in literature search and curated studies

From: Sex-specific recombination patterns predict parent of origin for recurrent genomic disorders

Locus

MIM number

# Studies includeda

Study references

1q21.1

612474/612475

5

[35,36,37,38,39]

1q21.1 TAR

274000

1

[40]

2q11.2

–

0

–

2q11.2q13

–

0

–

2q13

–

1

[37]

3q29

609425/611936

6

[37,38,39,40,41,42]

5q35

117550

2

[31, 32]

7q11.23

194050/609757

14

[24, 40, 43,44,45,46,47,48,49,50,51,52,53,54]

7q11.23 distal

613729

0

–

7q11.23 proximal

–

0

–

8p23.1

–

2

[55, 56]

10q23

612242

0

–

11q13.2q13.4

–

1

[57]

15q11.2

615656

0b

–

15q13.3

612001

3

[38, 40, 58]

15q24c

–

6

[59,60,61,62,63,64]

15q25.2

614294

3

[65,66,67]

15q25.2 (Cooper)

–

0

–

16p11.2

611913/614671

6

[26, 37, 40, 68,69,70]

16p11.2 distal

613444

3

[37, 38, 70]

16p11.2p12.2

–

0

–

16p11.2p12.1

–

1

[71]

16p12.1

136570

0

–

16p13.11

–

1

[37]

17p11.2

182290/610883

5

[72,73,74,75,76]

17p11.2p12d

118220/162500

0

–

17q11.2

613675/618874

3

[28, 29, 77]

17q12

614526/614527

3

[37, 38, 78]

17q21.31

610443/613533

9

[19, 25, 67, 79,80,81,82,83,84]

17q23

–

0

–

17q23.1q23.2

613355/613618

2

[69, 85]

22q11.2

188400/192430

20

[30, 43, 53, 86,87,88,89,90,91,92,93,94,95,96,97,98,99,100,101,102]

22q11.2 distal

611867

0

–

  1. aIndependent studies from which the parent of origin data for the current analysis were obtained. Studies may be repeated between loci
  2. bRecombination rates could not be calculated for 15q11.2 as the breakpoints were outside the range of recombination maps
  3. c15q24 locus is represented as 6 different intervals in Coe et al. [7]
  4. d17p11.2p12 excluded due to inconsistencies in the mechanism of formation. See Additional file 1: Supplemental Methods