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3 hours ago by

Bellingham, WA, USA

Hey everyone,

I am searching the GNOMAD 2.1.1 exome vcf and I am having trouble finding a field that I am interested in. I am looking for the number of individuals that are hemizygous for that variant.

For genes that the variant is on a non sex chromosome, this information is easy to find, but not for variants on the sex chromosomes.

e.g. The number of individuals can be found in the field "nhomalt". For example look at the gene gnomad.broadinstitute.org/gene/ENSG00000117475?dataset=gnomad_r2_1 , you can see on the right that the number of homozygotes is shown.

Sadly though I cannot find the field that corresponds to the number of hemizygotes.

Any suggestions?

Thanks in advance, this is my first time using GNOMAD



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