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Table 1 Breakpoint coordinates and affected genes of molecularly confirmed HERV-HERV CNVs

From: Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination

Patient

Locus

Type

Coordinatesb

Size

RefSeq genes

Start maximum

Start minimum

Stop minimum

Stop maximum

1

1q41

Del

chr1:222146420-223203497

1.05 Mb

HHIPL2, TAF1A, MIA3, AIDA, BROX, FAM177B, DISP1

222150405

222150567

223201703

223201865

2

Del

222150567

222150621

223201865

223201919

3

2p12

Dup

chr2:75440857-76806830

1.36 Mb

FAM176A, GCFC2, MRPL19, GCFC2

75444928

75444972

76804990

76805034

4a

2p12

Del

chr2:77315373-78197976

877 kb

LRRTM4, SNAR-H

77318677

77318740

78195410

78195473

5a

Del

77318677

77318740

78195410

78195473

6

Del

77318421

77318561

78195154

78195294

7

Dup

77318269

77318318

78195002

78195051

8

11q24.3

Del

chr11:130434282-130629032

189 kb

C11orf44

130434794

130434845

130623915

130623967

9

Del

130434721

130434729

130623842

130623850

10

Dup

130434903

130434960

130624026

130624082

  1. aPatients 4 and 5 are known siblings.
  2. bAll coordinates are provided in the GRCh37/hg19 assembly.
  3. Del, deletion; Dup, duplication.