cat-vrs/examples/json/tp53-copy-loss.annotated.json at v1 · ga4gh/cat-vrs · GitHub

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{
  "id": "civic.id:4452",
  "type": "CategoricalVariant",
  "name": "TP53 Loss",
  "description": "TP53 Copy Number Loss is a categorical copy-number variant resulting from the deletion of one copy of the TP53 gene.",
  "aliases": [
    "TP53 Copy Number Loss",
    "P53 Copy Number Loss"
  ],
  "extensions": [
    {
      "name": "cytogenetic location",
      "value": "17p13"
    }
  ],
  "constraints": [
    {
      "type": "DefiningLocationConstraint",
      "location": {
        "id": "ga4gh:SL.u9R1nbh-BFBoRI8Ravn3yBBSvp-u10LW",
        "description": "Genomic region between positions 7,668,420 to 7,687,490 on chromosome 17 (refseq:NC_000017.11, GRCh38).",
        "extensions": [
          {
            "name": "GRCh38 1-based, inclusive interval",
            "value": "chr17:(7668421\u20137687490)",
            "description": "Genomic region between positions 7,668,421 to 7,687,490 on chromosome 17 (refseq:NC_000017.11, GRCh38); 1-based, inclusive interval notation."
          },
          {
            "name": "GRCh38 0-based, half-open interval",
            "value": "chr17:(7668420\u20137687490)",
            "description": "Genomic region between positions 7,668,420 to 7,687,490 on chromosome 17 (refseq:NC_000017.11, GRCh38); 0-based, half-open interval notation."
          }
        ],
        "type": "SequenceLocation",
        "digest": "u9R1nbh-BFBoRI8Ravn3yBBSvp-u10LW",
        "sequenceReference": {
          "id": "refseq:NC_000017.11",
          "name": "NC_000017.11",
          "description": "Reference sequence for GRCh38 chromosome 17.",
          "aliases": [
            "GRCh38:17",
            "GRCh38:chr17",
            "ga4gh:SQ.dLZ15tNO1Ur0IcGjwc3Sdi_0A6Yf4zm7"
          ],
          "type": "SequenceReference",
          "refgetAccession": "SQ.F-LrLMe1SRpfUZHkQmvkVKFEGaoDeHul"
        },
        "start": [
          null,
          7668420
        ],
        "end": [
          7687490,
          null
        ]
      },
      "relations": [
        {
          "primaryCoding": {
            "code": "liftover_to",
            "system": "ga4gh-gks-term:allele-relation"
          }
        }
      ],
      "matchCharacteristic": {
        "primaryCoding": {
          "code": "is_within",
          "system": "ga4gh-gks-term:location-match"
        }
      }
    },
    {
      "type": "FeatureContextConstraint",
      "featureContext": {
        "id": "TP53",
        "name": "TP53",
        "conceptType": "gene",
        "primaryCoding": {
          "id": "hgnc:11998",
          "name": "TP53",
          "system": "https://genenames.org",
          "code": "HGNC:11998",
          "iris": [
            "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11998"
          ]
        },
        "extensions": [
          {
            "name": "cytogenetic location",
            "value": "17p13.1"
          }
        ]
      }
    },
    {
      "type": "CopyChangeConstraint",
      "copyChange": "loss"
    }
  ],
  "members": [],
  "mappings": [
    {
      "coding": {
        "name": "TP53 Loss",
        "system": "https://civicdb.org",
        "code": "civic.vid:4452",
        "iris": [
          "https://civicdb.org/variants/4452/summary"
        ]
      },
      "relation": "exactMatch"
    },
    {
      "coding": {
        "name": "TP53 Deletion",
        "system": "https://civicdb.org/",
        "code": "civic.mpid:4456",
        "iris": [
          "https://civicdb.org/molecular-profiles/4456/summary"
        ]
      },
      "relation": "relatedMatch"
    }
  ]
}