Analysis Output | Summary Analysis Report | Small Variants Summary

Small Variants Summary

Table 11   SNVs Table

Statistic

Definition

SNVs

The total number of SNVs present in the data set that passed the variant quality filters.

Percent Found in dbSNP

100*(Number of SNVs in dbSNP/Number of SNVs). The SNVs found in the dbSNP are annotated accordingly.

SNV Ts/Tv Ratio

Transition rate of SNVs that pass the quality filters divided by transversion rate of SNVs that pass the quality filters. Transitions are interchanges of purines (A, G) or of pyrimidines (C, T). Transversions are interchanges between purine and pyrimidine bases (for example, A to T).

SNV Het/Hom Ratio

Number of heterozygous variants/Number of homozygous variants.

Table 12   Insertions Table

Statistic

Definition

Insertions

The total number of insertions present in the data set that passed the variant quality filters.

Percent Found in dbSNP

100*(Number of SNVs in dbSNP/Number of SNVs). The SNVs that were found in the dbSNP are annotated accordingly.

Insertion Het/Hom Ratio

Number of heterozygous variants/Number of homozygous variants.

Table 13   Deletions Table

Statistic

Definition

Deletions

The total number of deletions present in the data set that passed the variant quality filters.

Percent Found in dbSNP

100*(Number of SNVs in dbSNP/Number of SNVs). The SNVs that were found in the dbSNP are annotated accordingly.

Deletions Het/Hom Ratio

Number of heterozygous variants/Number of homozygous variants.