Table 2. Confirmation of CNV calls by quantitative PCR.
TaqMan CNV Validation Status | Utah Family CNVs | Utah Sequence SNP CNVs | Literature CNVs | Total |
PASS | 24 (2 overlap with Lit. CNV) | 15 | 25 | 64 |
FAIL | 9 | 9 | 5 | 23 |
NoCall | 0 | 1 | 0 | 1 |
A summary of the PCR validation result is shown. Sequence SNP CNVs were discovered in this work using SNVs present on this array for sequence variant confirmation in the same cohort.