VCF file format
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Entering edit mode
2.0 years ago
lilly ▴ 10

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 • 615 views
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1
Entering edit mode
2.0 years ago

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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