Table 1.
Deleted CNVs containing genes with no known association with CHD and unknown function in cardiac development (category IV). See complete list of genes in Supplementary Table 8. Patient ID numbers are included to allow for cross reference with Supplementary Tables 1 and 4 for additional phenotypic description
| CNV segment ID | Locus | Coordinates of region of overlap or single CNV | Syndrome | # of patients | Patient ID number | Heart defects | Genes |
|---|---|---|---|---|---|---|---|
| 1 | 10q25.3 | 117108537–117433657 | 4 | 4456, 248409, 254604, 256406 | APVRa, VSD, TOF, ASD | ATRNL1 | |
| 2 | 14q12 | 29904720–30316660 | 14q12 Microduplication | 1 | 252353 | VSD | MIR548AI, PRKD1 |
| 3 | 2p15 | 61567864–61568645 | 2p15-p16.1 Microdeletion | 1 | 2172 | AS | USP34 |
| 4 | 3p26.3 | 1145284–1237776 | 1 | 262200 | VSD | CNTN6 | |
| 5 | 21q11.2-21.1 | 16378214–16782361 | 1 | GC7008 | MVP | NRIP1 | |
| 6 | 1q44 | 244744915–244828276 | 1 | GC75902 | HLHS | C1orf101, DESI2 | |
| 7 | 3p25.3 | 11393089–11618468 | 1 | 274688 | ASD | ATG7, VGLL4 | |
| 8 | 6q21 | 107461798–107814267 | 1 | 254740 | VSD | PDSS2, SOBP | |
| 9 | 6p25.3 | 366332–771504 | 6p25.3 Microdeletion | 1 | 273668 | VSD | IRF4, EXOC2, HUS1B |
| 10 | 17p13.3 | 87009–490921 | Miller-Dieker syndrome (MDS) | 1 | 253979 | TOF | RPH3AL, LOC100506388, C17orf97, FAM101B, VPS53 |
| 11 | 16p13.3 | 2312956–2353159 | 1 | 2627 | ASD | RNPS1, MIR3677, MIR940, MIR4717, ABCA3 | |
| 12 | 16q24.3 | 89475450–89652148 | ANKRD11 haploinsufficiency/16q24.3 Microdeletion | 1 | 249412 | AVCD | ANKRD11, LOC101927817, SPG7, RPL13, SNORD68, CPNE7 |
| 13 | 21q22.11 | 34886796–35051669 | 21q deletion syndrome | 1 | GC52571 | ASD | GART, SON, MIR6501, DONSON, CRYZL1, ITSN1 |
| 14 | 1q44 | 246839121–247179291 | 1 | 271992 | VSD | SCCPDH, LINC01341, AHCTF1, ZNF695, ZNF670-ZNF695 | |
| 15 | 17q21.31 | 43868982–44378247 | 17q21.31 Microdeletion, 17q21.31 Microduplication | 1 | 252142 | VSD, ASD | CRHR1, MAPT-AS1, SPPL2C, MAPT, MAPT-IT1, STH, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, ARL17A, ARL17B |
| 16 | 9q34.3 | 140403363–140596152 | 9q34 Microdeletion/Kleefstra | 2 | 250053 | ASD, COA, | PNPLA7, MRPL41, DPH7, ZMYND19, ARRDC1, ARRDC1-AS1, EHMT1 |
| 17 | 22q11.21-22 | 21721591–22423216 | 22q11.2 Distal microdeletion | 4 | 262483, 254238, 251833, 251228 | VSD (2), TOF, AVCD | HIC2, RIMBP3B, RIMBP3C, TMEM191C, PI4KAP2, UBE2L3, YDJC, CCDC116, SDF2L1, MIR130B, MIR301B, PPIL2, YPEL1, MAPK1, PPM1F, TOP3B, IGLC1 |
| 18 | 19p13.11 | 16517519–17477318 | 1 | 4101 | TOF | 26 | |
| 19 | 19p13.3 | 259395–1144343 | Peutz-Jeghers (PJS) | 1 | 258539 | ASD | 40 |
VSD = ventricular septal defect, AVCD = atrioventricular canal defect, ASD = atrial septal defect, TOF = tetralogy of fallot, HLHS = hypoplastic left heart syndrome, APVR, COA = coarctation of aorta, MVP = mitral valve prolapse, AS = aortic stenosis and APVR = anomalous pulmonary venous returna.