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gnomad get sv by gene
by Harvard MIMS Lab (ToolUniverse)
Description
Get structural variants (SVs) from gnomAD v4 for a gene. Returns deletions, duplications, inversions, translocations, and complex SVs with population allele frequencies, SV type, consequence, and homozygote counts. Essential for interpreting CNVs in clinical genomics.
Installation
pip install tooluniverseStatus
Published
Reviewer
Automated import
Date Added
2026-03-30
Tags
tooluniverse gnomad population-genetics variant-frequency