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Research tool·genomics·clingen_dosage

ClinGen Dosage Region Search

Search ClinGen dosage sensitivity curations by genomic region. Returns all genes and recurrent CNV regions with dosage sensitivity curations overlapping the specified chromosomal coordinates. Supports both GRCh37 and GRCh38. Results include haploinsufficiency and triplosensitivity scores. Useful for interpreting the clinical significance of deletions and duplications detected by chromosomal microarray.

AvailableCortexa

Schema

JSON Schema the agent (or your API call) must match.

View JSON schemaExpandCollapse
JSON · 31 lines · 562 chars

Examples (1)

Default ClinGen Dosage Region Search call

Public-safe example · rate-limited

JSON input · 6 lines · 74 chars
Expected response keys: success

Identifiers

Catalog ID
tu_ClinGen_dosage_region_search
Tool name
ClinGen_dosage_region_search
Added
2026-05-01 00:58Z
Tags
tooluniverse
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