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gnomad get sv by region
by Harvard MIMS Lab (ToolUniverse)
Description
Get structural variants (SVs) from gnomAD v4 overlapping a genomic region. Returns DEL/DUP/INV/BND/CPX variants with allele frequencies and consequences. Use for CNV interpretation in specific chromosomal regions. Region should be < 5Mb.
Installation
pip install tooluniverseStatus
Published
Reviewer
Automated import
Date Added
2026-03-30
Tags
tooluniverse gnomad population-genetics variant-frequency