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Single Nucleotide Variant (SNV)

Definition
AI-generated

An SNV is a sequence variant involving a change of one nucleotide at a single genomic position.

Topics
Core genetics
Related
Rare Variant Single Nucleotide Polymorphism (SNP) Variant Calling

Why it matters in GWAS

SNV is the broader sequencing-era term used in variant calling and annotation, while GWAS array studies often focus on the subset of common SNVs that are SNPs.

Example usage

"Quality-controlled Single Nucleotide Variant (SNV) data were used to prioritize robust loci and downstream functional follow-up."

Rare Variant Single Nucleotide Polymorphism (SNP) Variant Calling Variant Annotation
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References

  • Koboldt DC. (2020). Best practices for variant calling in clinical and population sequencing. Nat Methods.
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