Hi gnomAD team,
The VCF specification (section 1.6.1) denotes the following for the position (POS) of structural variants (e.g. <DEL>) in the VCF file :
REF — reference base(s): (…) If any of the ALT alleles is a symbolic allele (an angle-bracketed ID String ) then the padding base is required and POS denotes the coordinate of the base preceding the polymorphism.
However I noticed that exactly the same position from the VCF file (that is the preceding base) is reported in the gnomAD browser as the position of the variant. For instance,
VCF:
chr1 11000 gnomAD-SV_v3_DUP_chr1_7d73682f N <DUP> 999 PASS ALGORITHMS=depth;CHR2=chr1;END=51000;...
Webportal: DUP_CHR1_7D73682F | gnomAD SVs v4.1.0 | gnomAD (broadinstitute.org) | 11000 - 51000
I wonder if the start position in the gnomAD browser should increase 1 bp to reflect the start position of the variant. Thank you very much
Best,
Javier