Table 3.
Candidate CNVs
| ID | Chromosomal location (hg19) | Minimal–maximal size (bp) | Validation technique | Frequency (%) | Protein-coding genes | CN of gene of interest | Additional evidence | |
|---|---|---|---|---|---|---|---|---|
| CNV cases | TAD boundary | |||||||
| 1 | chr1:g.(228224824_228297613)_(228703236_228784907)dup | 405 624–560 082 | MLPA | 0.26 | WNT3A, ARF1, c1orf35, MRPL55, GUK1, GJC2, IBA57, OBSCN, TRIM11, TRIM17, HIST3H2A, HIST3H2BB, HIST3H3, RNF187, RHOU | 2 | No | Only for RHOU |
| 2 | chr7:g.(34899235_34920075)_(35212065_35269625)dup | 291 990–370 389 | qPCR | 0.02 | NPSR1, DPY19L1, TBX20 | 2 | Yes | Yes |
| 3 | chr13:g.(74133837_74152544)_(74283131_74298889)dup | 130 587–165 051 | MAQ | 0.01 | KLF12 | 3 | No | No |
| 4 | chr16:g.(16308351_16633361)_(16688008_16878729)dup | 54 647–570 377 | MLPA | 0.56 | ABCC6, NOMO3 , NPIPA7, NPIPA8 | 2 | No | Yes |
| 5 | chr19:g.(20826692_20834979)_(20987550_21001965)dup | 152 571–175 272 | MAQ | 0.19 | ZNF626 | 3 | Yes | No |
| 6 | chr19:g.(8206748_8213468)_(8227432_8235774)dup | 13 964–29 025 | MLPA | 0.03 | FBN3 | 3 | No | No |
| 2 | chr22:g.(18656495_18844632)_(19008108_19016663)del | 163 476–360 167 | MAQ | 0.9 | USP18, DGCR6, PRODH, | 1 | Yes | Yes |
Gene of interest in bold; underlined genes are not affecting the cardiovascular system (autosomal recessive/dominant, susceptibility genes) (GJC2, OMIM608804, 613480, 613206; IBA57, OMIM615330, 616451; PRODH, OMIM239500, 600850). Chromosomal position are based on Hg19
Dup Duplication, Del Deletion, MLPA multiplex ligation-dependent probe amplification, qPCR quantitative polymerase chain reaction, MAQ multiplex amplicon quantification, Bp base pairs, CN copy number, CNV copy number variation, TAD topological associated domain