Skip to main content

Table 2 Total of 13 previously detected CNVs (from the Database of Genomic Variants) with breakpoints located to the paralogous subunits (see Figure 7A)

From: Characterization of the past and current duplication activities in the human 22q11.2 region

Index

CNV start

CNV End

Length (bp)

Gain/Loss

Left subunit

Right subunit

Subunit family ID

Block

Technology

1

17108337

17249642

141305

Gain

17106814-17116867

17241175-17251240

80

LCR22-2'

aCGH

2

17108337

17249642

141305

Loss

17106814-17116867

17241175-17251240

80

LCR22-2'

aCGH

3

21346546

21412512

65966

Loss

21344443-21350044

21410029-21415309

42

LCR22-5'

sequencing

4

21350920

21372688

21768

Loss

21350334-21351679

21371980-21373335

52

LCR22-5'

sequencing

5

21359730

21420692

60962

Loss

21359721-21367895

21420384-21428665

58

LCR22-5'

sequencing

6

21364900

21425105

60205

Loss

21359721-21367895

21420384-21428665

58

LCR22-5'

sequencing

7

21378929

21437071

58142

Loss

21376652-21382799

21434410-21440989

94

LCR22-5'

sequencing

8

21381357

21439879

58522

Loss

21376652-21382799

21434410-21440989

94

LCR22-5'

sequencing

9

21430381

21494380

63999

Loss

21429486-21431884

21493407-21495966

71

LCR22-5'

sequencing

10

22245900

22313362

67462

Loss

22244487-22248921

22309895-22314095

98

LCR22-6'

Paired End Mapping

11

22247409

22311770

64361

Loss

22244487-22248921

22309895-22314095

98

LCR22-6'

aCGH

12

22291744

22295976

4232

Loss

22288656-22292395

22292394-22296670

6

LCR22-6'

sequencing

13

22626028

22660855

34827

Loss

22621224-22626431

22659321-22664520

8

LCR22-7'

aCGH