Cortexa 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.

Livelast probed 2026-05-01 01:00Z· 5718msCortexa

Status

The most recent probe succeeded. Safe to call from the agent today.

Last probed: 1d ago
Last success: 1d ago
Last latency: 5718ms

Schema

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

{
  "properties": {
    "assembly": {
      "default": "GRCh38",
      "description": "Genome assembly version.",
      "enum": [
        "GRCh37",
        "GRCh38"
      ],
      "type": "string"
    },
    "chromosome": {
      "description": "Chromosome (e.g., '17', 'X').",
      "type": "string"
    },
    "end": {
      "description": "End position.",
      "type": "integer"
    },
    "start": {
      "description": "Start position.",
      "type": "integer"
    }
  },
  "required": [
    "chromosome",
    "start",
    "end"
  ],
  "type": "object"
}

Examples (1)

Default ClinGen Dosage Region Search call

public-safeinput

{
  "chromosome": "",
  "end": 1,
  "start": 1
}

Expected response keys: success

Anonymous-safe example. Rate-limited; no sign-in required.

Identifiers

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

ClinGen Dosage Region Search

Livelast probed 2026-05-01 01:00Z· 5718msCortexa

Schema

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

{ "properties": { "assembly": { "default": "GRCh38", "description": "Genome assembly version.", "enum": [ "GRCh37", "GRCh38" ], "type": "string" }, "chromosome": { "description": "Chromosome (e.g., '17', 'X').", "type": "string" }, "end": { "description": "End position.", "type": "integer" }, "start": { "description": "Start position.", "type": "integer" } }, "required": [ "chromosome", "start", "end" ], "type": "object" }