Entering edit mode
5.2 years ago
marius.a.kuehl
•
0
Hello everyone,
i am currently trying to understand how to notate breakends in the vcf format.
In the given example i am not sure how to do the notations for chromosome 1.
I would start with:
Pos: 12
Ref: X
Alt: X[2: 80[
Info: SVTYPE=BND
But how to notate the second breakend? The reference chromosome is not long enough and i dont know how to add a stop position inside the first breakend's entry. Is it possible to add an END=110
to the first entry's info field and start the new entry with Pos: 13
? But what if the end of the first chromosome is reached?
Thank you alot in advance, for any information.