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VCF file format

Here is the vcf file format,

| CHROM | POS | ID |REF | ALT | 
|:---- |:------:| -----:|:---- |:------:| -----:|
| chr1  | 11    | . | G | CT
| chr1  | 12    | . | G | A 
| chr1  | 13    | . | T | C
| chr1  | 14    | . | TGT | T

In this file format, G--> CT and TGT-->T will be considered as SNVs?##

nucleotide single select variants
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updated by harold.smith.tarheel harold.smith.tarheel • written by lilly • lilly

1 answer

SNV is the acronym for single nucleotide variant. It applies only to variants where one nucleotide is replaced by another. Your two examples do not fit this criterion. G -> CT is a one-nucleotide insertion plus nucleotide substitution, and TGT -> T is a deletion of two nucleotides.

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written by harold.smith.tarheel harold.smith.tarheel

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