Table 2 List of cases observed with pathogenic or likely pathogenic copy number variation using CMA and/or WES.
Sr No | Case ID | Chr No | Chromosomal microarray | Whole exome sequencing | CNV Type | Zygosity | Inheritance pattern | Inherited from | Variant classification | OMIM Disease (OMIM ID) | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
Genomic coordinate | Size (Kbp) | Genomic coordinate | Variant | |||||||||
1 | ASD-021 | 15 | - | - | ?_20279345_21145729_? | chr15:g.(?_20279345)_(21145729_?)del | loss | Het | AD | De novo | Variant of uncertain significance | Chromosome 15q11.2 deletion syndrome (#615,656) |
2 | ASD-050 | 1 | arr[GRCh37] 1q22(155446632_155971760)x3 | 525 | ?_155611966_156081998_? | chr1:g.(?_155611966)_(156081998_?)dup | gain | Het | AD | De novo | Likely pathogenic | Chromosome 1q22 microduplication syndrome |
3 | ASD-076 | 15 | arr[GRCh37]15q11.2q13.2(22770421_30913574)x1 | 8,143 | ?_24955049_28272386_? | chr15:(?_24955049)_(28272386_?)del | loss | Het | AD | De novo | Pathogenic | Chromosome 15q11.2 deletion syndrome (#615,656) |
4 | ASD-103 | 9 | arr[GRCh37]9q34.3(140338142_140533378)x1 | 195 | ?_137426248_137629023_? | chr9:g.(?_137426248)_(137629023_?)del | loss | Het | AD | De novo | Pathogenic | Kleefstra syndrome-1 (#610,253) |