Table 2 Size and position of the CNVs: validation of chromosomal positions predicted by NIPS using chromosomal microarray analysis

From: Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening

  

NIPS

Array-CGH mother

Family ID

Del/Dup

Start

Stop

Size (kb)

Exon

Effect

Start

Stop

Size (kb)

Exon

Effect

1

Del

31,786,996

31,835,697

48.701

51

Out-of-frame

31,780,126

31,821,260

41.134

51

Out-of-frame

2

Dup

31,683,494

32,202,063

518.569

45–53

In-frame

31,605,940

32,118,239

512.299

45–53

In-frame

3

Del

32,580,346

32,681,449

101.103

10–16

In-frame

32,582,584

32,676,287

93.703

10–16

In-frame

4

Del

32,489,765

32,598,764

108.999

14–22

Out-of-frame

32,500,113

32,592,155

92.042

14–21

Out-of-frame

5

Del

31,750,628

32,008,715

258.087

45–51

In-frame

31,754,837

32,006,298

251.461

45–51

In-frame

6

Del

31,856,163

31,889,973

33.810

31,854,529

31,877,889

23.36

49

In-frame

7

Del

31,636,676

31,844,031

207.355

50–55

In-frame

31,642,684

31,838,230

195.546

50–55

In-frame

8

Del

31,855,215

31,935,595

80.380

48

In-frame

31,854,854

31,935,133

80.279

48–49

In-frame

9

Del

31,694,976

31,786,958

91.982

52–53

In-frame

31,696,408

31,776,368

79.96

52–53

In-frame

10

Dup

32,465,085

32,673,646

208.561

10–27

In-frame

32,465,982

32,664,559

198.577

10–27

In-frame

11

Dup

32,462,001

32,671,622

209.621

10–27

In-frame

32,465,982

32,664,559

198.577

10–27

In-frame

12

Dup

32,462,635

32,654,437

191.802

12–27

In-frame

32,465,982

32,664,559

198.577

10–27

In-frame

13

Del

31,602,998

31,695,378

92.380

54–55

In-frame

31,610,838

31,694,483

83.645

54–55

In-frame

14

Dup

31,323,743

31,815,934

492.191

51–62

Out-of-frame

31,308,362

31,805,802

497.44

51–62

Out-of-frame

15

Del

31,235,477

31,798,048

562.571

51–64

In-frame

31,240,957

31,792,296

551.339

51–64

In-frame

16

Del

31,480,299

31,639,279

158.980

56–59

In-frame

31,482,871

31,635,046

152.175

56–59

In-frame

  1. array-CGH array comparative genomic hybridization, CNVs copy-number variations, Del deletion, Dup duplication, NIPS noninvasive prenatal screening.