Variant Instance

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{
    "data": {
        "type": "CopyNumberVariant",
        "id": "535",
        "attributes": {
            "status": null,
            "genomic_position_hg19": 112036797,
            "genomic_position_hg38": 111598993,
            "chromosome": "12",
            "annotation_flag": "cnv",
            "location": "p.Q188",
            "sequence": "CAG",
            "number_of_repeats": "{\"bounds\": \"[)\", \"lower\": \"29\", \"upper\": \"33\"}",
            "type_cnv": "repeat"
        },
        "relationships": {
            "in_combination": {
                "meta": {
                    "count": 3
                },
                "data": [
                    {
                        "type": "Combination",
                        "id": "OLI275"
                    },
                    {
                        "type": "Combination",
                        "id": "OLI278"
                    },
                    {
                        "type": "Combination",
                        "id": "OLI281"
                    }
                ],
                "links": {
                    "self": "https://olida.ibsquare.be/api/variants/535/relationships/in_combination?format=api",
                    "related": "https://olida.ibsquare.be/api/variants/535/combinations/?format=api"
                }
            },
            "submitter": {
                "data": null
            },
            "curator": {
                "data": null
            },
            "gene_name": {
                "data": {
                    "type": "Gene",
                    "id": "ATXN2"
                },
                "links": {
                    "related": "https://olida.ibsquare.be/api/genes/ATXN2/?format=api"
                }
            }
        },
        "links": {
            "self": "https://olida.ibsquare.be/api/variants/535/?format=api"
        }
    },
    "meta": {
        "database_name": "OLIgogenic diseases DAtabase (OLIDA)",
        "resource_url": "olida.ibsquare.be",
        "api_release_year": "2021",
        "api_developer": [
            [
                "Arnau Dillen",
                "arnau.dillen@ulb.ac.be"
            ],
            [
                "Charlotte Nachtegael",
                "charlotte.nachtegael@ulb.be"
            ]
        ],
        "api_version": "0.3",
        "api_maintainers": [
            [
                "Charlotte Nachtegael",
                "charlotte.nachtegael@ulb.be"
            ]
        ],
        "api_documentation": [
            "olida.ibsquare.be/api/swagger",
            "olida.ibsquare.be/api/redoc"
        ],
        "copyright": "Copyright (c) 2025 · OLIDA All Rights Reserved.",
        "license": "CC Attribution-NonCommercial 4.0 International License",
        "ontologies": {
            "ORDO": "http://bioportal.bioontology.org/ontologies/ORDO",
            "GENO": "http://purl.obolibrary.org/obo/geno.owl",
            "MI": "http://purl.obolibrary.org/obo/mi.owl",
            "NCIT": "http://purl.obolibrary.org/obo/ncit.owl",
            "OGI": "http://purl.obolibrary.org/obo/ogi.owl",
            "OGG": "http://purl.obolibrary.org/obo/ogg.owl"
        },
        "relevant_publications_doi": [
            "10.1093/nar/gkv1068",
            "10.1093/database/baac023"
        ],
        "lastmodified": "2021-10-18T11:00:54.034855",
        "status": "CU",
        "curator": null,
        "submitter": "cnachteg"
    }
}