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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
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BMC Medical Genomics

ISSN: 1755-8794

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