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Cortexa research tool·structure·gnomad
Gnomad Get Sv By Gene
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.
AvailableCortexa
Schema
JSON Schema the agent (or your API call) must match.
JSON · 21 lines · 397 chars
Examples (1)
Default Gnomad Get Sv By Gene call
public-safeinput
JSON · 3 lines · 28 chars
Expected response keys: success
Anonymous-safe example. Rate-limited; no sign-in required.
Identifiers
- Catalog ID
- tu_gnomad_get_sv_by_gene
- Tool name
- gnomad_get_sv_by_gene
- Added
- 2026-05-01 00:58Z
- Tags
- tooluniverse