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 |