Table 3 Reproducibility of ClinSV. Nine replicates of NA12878 were sequenced using 30–40x WGS, and the consistency of CNV and SV calls identified by ClinSV was assessed
SVs/CNVs | Confidence | Average | Stdev | Min | Max |
|---|---|---|---|---|---|
CNVs | High | 99.1 | 0.3 | 98.5 | 99.7 |
CNVs | High and pass | 85.0 | 1.9 | 81.3 | 88.8 |
All SVs | High | 98.7 | 0.4 | 97.5 | 99.4 |
All SVs | High and pass | 83.9 | 2.6 | 78.1 | 89.1 |