Skip to main content

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