| Characteristics of the baseline truth CNVs defined by the SNP array | |
---|---|---|
Deletion | Duplication | |
Number of CNVs | 180 | 299 |
Size | 2.1 kb to 3.1 Mb (mean = 160 kb, median = 57 kb) | 6 kb to 1.8 Mb (mean = 202 kb, median = 94 kb) |
No. of SNP probes | 10 to 2258 (mean = 67, median = 20) | 10 to 774 (mean = 62, median = 29) |
No. of exons overlapping the CNV | 1 to 464 (mean = 15, median = 9) | 1 to 359 (mean = 19, median = 11) |
Small CNVs (< 4 exons) | 36 (20%) | 68 (23%) |
Clinically reported CNVs | 24 (13%) | 17 (6%) |