Table 1.
Predicted SV types in CHM1 and NA12878 by SVelter
| SV type | CHM1 | NA12878 |
|---|---|---|
| Simple DEL | 1003 (0.72) | 1867 (0.95) |
| Simple DUP | 897 (0.61) | 790 (0.61) |
| Tandem | 834 (0.62) | 755 (0.60) |
| Dispersed | 63 (0.56) | 35 (0.71) |
| Simple INV | 48 (0.75) | 107 (0.76) |
| Simple TRA | 24 (0.67) | 30 (0.83) |
| INV + DUP | 126 (0.59) | 29 (0.86) |
| DEL + INV | 8 (0.88) | 26 (0.81) |
| DEL + DUP | 8 (0.50) | 12 (0.67) |
| DEL + DUP + INV | 2 (1.00) | 6 (0.83) |
| Other | 112 (0.63) | 204 (0.77) |
Numbers in parenthesis indicate percentage of calls with PacBio validation support. The remaining calls either were not able to be assayed with our approach or were invalidated