VCF file format
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8.5 years ago

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.

VCF • 1.5k views
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Almost correct; just note that the second entry involves the deletion of a total of three AAATs, not two.

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Thank you for the clarification.

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3
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8.5 years ago

You understood correctly.

Edit: What chrchang523 said.

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