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Table 3 CNVs in 259 SV cases

From: Copy number variation analysis in Chinese children with complete atrioventricular canal and single ventricle

ID

Sex

Cardiac Phenotype

CNV

Start (bp)

End (bp)

size (Kb)

Marker Count

Chr,region

Frequency (%) in our cohort#

CNV Type

Frequency (%) in DGV*

Frequency (%) in DECIPHER*

DECIPHER/ISCA/OMIM

Major candidate genes

SV039

M

SV, CAVC, PS

Del

60,756,434

61,430,513

674

94

14q23.1

0.3861 (1/259)

N-causative

0.0176

   

SV130

F

SV, SA, CAV

Dup

149,504,294

150,375,282

871

91

Xq28

0.3861 (1/259)

N-causative

0.8100

   

SV136

M

SV, MGA, PS

Del

38,016,208

38,115,650

99

69

22q13.1

0.3861 (1/259)

N-causative

0.0046

   

SV139

F

SV, CAVC, MGA, SA

Dup

215,435,747

216,250,781

815

73

2q35

0.3861 (1/259)

N-causative

N. A

   

SV140

M

SV, ASD, MGA

Dup

109,713,114

110,674,457

961

111

2q13

0.3861 (1/259)

N-causative

0.0742

   

SV143

M

SV, bilateral right-sideness isomerism, CAV, MGA, SA

Dup

120,423,759

121,529,013

1105

154

2q14.2

0.3861 (1/259)

N-causative

N. A

   

SV168

F

SV, ASD, PDA, PA

Del

38,031,511

38,115,657

84

67

22q13.1

0.3861 (1/259)

N-causative

0.0046

   

SV176

M

SV, VSD, SA, PS

Dup

30,969,138

31,111,965

143

79

7p14.3

0.3861 (1/259)

N-causative

0.0324

   

SV220

M

SV, bilateral right-sideness isomerism, MGA, SA

Del

70,952,592

71,144,199

192

101

5q13.2

0.3861 (1/259)

N-causative

1.5418

   

SV226

F

SV, bilateral right-sideness isomerism, MGA, SA, AVVR

Dup

127,821,735

128,377,797

556

89

5q23.2-5q23.3

0.3861 (1/259)

N-causative

N. A

   

SV228

M

SV, DORV, CAVC, PFO

Dup

36,101,999

36,481,789

380

59

17q12

0.3861 (1/259)

N-causative

0.3247

   

SV261

F

SV, CAVC, dextrocardia, PS, MGA, SA

Dup

10,789,416

11,070,136

281

131

Xp22.2

0.3861 (1/259)

N-causative

0.0046

   

SV261

F

SV, CAVC, dextrocardia, PS, MGA, SA

Dup

40,813,257

41,931,182

1118

79

7p14.1

0.3861 (1/259)

P-causative

 

0.0104 (4/38367)

VSD

INHBA

SV143

M

SV, bilateral right-sideness isomerism, CAV, MGA, SA

Dup

167,970,535

169,617,000

1646

154

5q34-5q35.1

0.3861 (1/259)

P-causative

 

0.0391 (15/38367)

VSD, CoA

TENM2, SLIT3

SV147

F

SV, ASD, SA

Dup

100,407,113

101,349,032

942

136

Xq22.1

0.3861 (1/259)

P-causative

 

0.1277 (49/38367)

VSD

PCDH19

SV163

M

SV, TGA, CoA

Dup

225,487,757

227,180,965

1693

238

1q42.12-1q42.13

0.3861 (1/259)

P-causative

 

0.0547 (21/38367)

VSD

LEFTY1, LEFTY2

SV195

M

SV, mesocardia, PS, SA, MGA, atrial situs inversus

Dup

71,674,242

72,187,074

513

66

2p13.2

0.3861 (1/259)

P-causative

 

0.0078 (3/38367)

VSD

CYP26B1

SV007

M

SV, SA, PS

Del

80,259,789

88,874,526

8615

581

8q21.13-8q21.3

0.0860 (33/38367)

P-causative

 

0.0860 (33/38367)

TOF, VSD

ZBTB10

  1. The details of CNVs in 259 SV patients were presented, including 12 non-causative CNVs (N-causative) and 6 potentially-causative CNVs (P-causative). “Dup” means duplication; “Del” means deletion; “CN” means copy number; “N.A” means not available. # Frequencies in our cohort (Common,  ≥ 1%; Rare, < 1%). * Frequencies referred to corresponding public dataset (DGV for non-causative CNVs, Decipher for potentially-causative CNVs). Potentially-causative CNV frequency in Decipher was calculated with specific CNV counts dividing by the number of open-access patient records