VCF file format
I am from a SW development background and trying to understand the VCF file format and have a certain confusion regarding interpreting the mutation. So, I have a record where the REF and ALT values are:
REF: AAAATAAATAAAT
ALT: AAAATAAAT, A
The way I understand it, that the first ALT entry represents a deletion of the base pairs (AAAT). Is that correct?
The second entry also represents a deletion as far as I can tell with the deletion of (AAATAAAT).
I was wondering if someone could clarify if I have understood this correctly.
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luca.pamparana •
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luca.pamparana •
1 answer
You understood correctly.
Edit: What chrchang523 said.
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Devon Ryan
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Almost correct; just note that the second entry involves the deletion of a total of three AAATs, not two.
Thank you for the clarification.