Variant Statistics



Sample SNPs Small insertions Small deletions Synonymous coding variants Non-synonymous coding variants Splicing variants Stop gained Stop lost Frame shift % found in dbSNP138 % found in dbSNP151 Het/Hom ratio Ts/Tv ratio
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  •     · Synonymous variant : Variant causes a codon that produces the same amino acid e.g.: Ttg/Ctg, L/L.
  •     · Non-Synonymous variant : Variant causes a codon that produces a different amino acid e.g.: Tgg/Cgg, W/R.
  •     · Splicing variants : The variant hits a splice acceptor and donor site.
  •     · Stop gained : Variant causes a stop codon e.g.: Cag/Tag, Q/*.
  •     · Stop lost : Variant causes stop codon to be mutated into a non-stop codon e.g.: Tga/Cga, */R.
  •     · Frameshift : Insertion or deletion causes a frame shift e.g.: An indel size is not multple of 3.
  •     · % found in dbSNP138 : rs number.
  •     · % found in dbSNP151 : rs number.
  •     · Het/Hom ratio : Ratio of number of heterozygous variants to number of homozygous variants.
  •     · Ts/Tv ratio : Ratio of 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).


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