rare SNP or SNV
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4.3 years ago
prasundutta87 ▴ 670

Hi,

Can a rare variant (point mutation) be called a rare SNP (single nucleotide polymorphism) or instead should be called a rare SNV (single nucleotide variant)? This is because the word 'SNP' refers to single base variations that have risen to a frequency greater than 1% of the population. Just to add, I am referring to rare variants as single point mutation with 0 < MAF < 0.05 where MAF is minor allele frequency.

snp snv • 1.3k views
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There is no consensus. I provided some thoughts here: A: Genotyping, genotype calling or SNP calling?

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