Variant Calls
Statistic |
Definition |
---|---|
Homozygous reference |
Number of homozgous reference calls. |
SNV |
Total number of single nucleotide variants (SNVs) detected for the sample. |
Indel |
The number of indels detected for the sample. |
SNV Het/Hom |
The number of heterozygous SNVs that pass the quality filters divided by the number of homozygous SNVs that pass the quality filters. |
SNV Transition/Transversion |
The number of transition SNVs that pass the quality filters divided by the number of transversion SNVs that pass the quality filters. Transitions are interchanges of purines (A, G) or of pyrimidines (C, T). Transversions are interchanges of purine and pyrimidine bases (for example, A to T). |