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Table 2 ClinVar pathogenic CNV sensitivity analysis. The sensitivity of ClinSV was assessed using simulated WGS data representing 2470 pathogenic or likely pathogenic CNVs

From: ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data

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