SV download not matching online browser

Hello! We are using the latest gnomAD SV download (gs://gcp-public-data–gnomad/release/4.1/genome_sv/gnomad.v4.1.sv.sites.vcf.gz) and have noticed that some of the data included in there is not in the online browser. For instance in one case, the following CNV exists in the gnomAD database: gnomAD-SV_v3_CNV_chr1_ddb7b65a’, chr1:17897565:230439949. However when we look for this CNV online we do not see it. This is a very large high frequency variant, so we are wondering if this was removed due to new filtration metrics. But if so are those not applied in the most recent download? We also noticed that the CNVs are named with “v3.” Could you explain if these SVs are all from the 4.1 dataset?

Hi @anagy, thanks for your question. It does appear that multiallelic CNVs from the v4.1 SV dataset are not showing up on the browser, so we are going to look into that. As for the “v3” in the variant IDs, that is just an internal naming convention quirk - these variants still belong to v4.1.

Thank you so much Emma for looking into this and responding so quickly! It is much appreciated :slight_smile:

Thanks for your patience while we looked into this. Adding support for multiallelic CNVs on the browser is on our backlog, but we don’t have an ETA at this time due to competing priorities. If you’d like to track progress, you’re welcome to follow the relevant GitHub issue here.

Thank you for the update!