Variant Analysis

Single-Nucleotide Variant

The SNV is a base substitution of a single nucleotide for another. It is known as single-nucleotide polymorphism(SNP) if its allelic frequency in a population is more than 1%. ¹

Tools

VCF

bcftools

References

Footnotes

1. Bioinformatics: A Practical Guide to Next Generation Sequencing Data Analysis - Hamid D. Ismail; Page 110 ↩