Table 2 ClinVar pathogenic CNV sensitivity analysis. The sensitivity of ClinSV was assessed using simulated WGS data representing 2470 pathogenic or likely pathogenic CNVs
Size range | Deletions | Duplications | ||||
|---|---|---|---|---|---|---|
# Variants | Sensitivity | # Missed | # Variants | Sensitivity | # Missed | |
0–500 | 753 | 83.4% | 125 | 95 | 41.1% | 56 |
500–1 k | 104 | 91.3% | 9 | 9 | 77.8% | 2 |
1 k–5 k | 328 | 94.5% | 18 | 47 | 89.4% | 5 |
5 k–10 k | 141 | 96.5% | 5 | 35 | 85.7% | 5 |
10 k–50 k | 278 | 99.6% | 1 | 79 | 100.0% | 0 |
50 k–100 k | 123 | 100.0% | 0 | 28 | 100.0% | 0 |
100 k–500 k | 207 | 100.0% | 0 | 110 | 100.0% | 0 |
500 k–5 M | 69 | 98.6% | 1 | 64 | 100.0% | 0 |
Total | 2003 | 92.0% | 159 | 467 | 85.4% | 68 |