Sequence-genetics-example4.json

Example for structutal variant

{
  "resourceType": "Sequence",
  "id": "seq4",
  "text": {
    "status": "generated",
    "div": "<div><p><b>Generated Narrative with Details</b></p><p><b>id</b>: seq4</p><p><b>type</b>: DNA</p><p><b>variationID</b>: essv25820997 <span>(Details : {http://www.ncbi.nlm.nih.gov/dbvar/ code 'essv25820997' = '??)</span></p><p><b>referenceSeq</b>: NC_000007.14 <span>(Details : {http://www.ncbi.nlm.nih.gov/nuccore/ code 'NC_000007.14' = '??)</span></p><h3>Coordinates</h3><table><tr><td>-</td><td><b>Chromosome</b></td><td><b>Start</b></td><td><b>End</b></td><td><b>GenomeBuild</b></td></tr><tr><td>*</td><td>7 <span>(Details : {[not stated] code '7' = '??)</span></td><td>87627621</td><td>87642522</td><td>GRCh38 <span>(Details )</span></td></tr></table><p><b>species</b>: Homo sapiens <span>(Details : {SNOMED CT code '337915000' = '??)</span></p><p><b>copyNumberEvent</b>: deletion <span>(Details )</span></p></div>"
  },
  "type": "DNA",
  "variationID": [
    {
      "coding": [
        {
          "system": "http://www.ncbi.nlm.nih.gov/dbvar/",
          "code": "essv25820997"
        }
      ],
      "text": "essv25820997"
    }
  ],
  "referenceSeq": {
    "coding": [
      {
        "system": "http://www.ncbi.nlm.nih.gov/nuccore/",
        "code": "NC_000007.14"
      }
    ],
    "text": "NC_000007.14"
  },
  "coordinate": [
    {
      "chromosome": {
        "coding": [
          {
            "code": "7"
          }
        ]
      },
      "start": 87627621,
      "end": 87642522,
      "genomeBuild": {
        "text": "GRCh38"
      }
    }
  ],
  "species": {
    "coding": [
      {
        "system": "http://snomed.info/sct",
        "code": "337915000"
      }
    ],
    "text": "Homo sapiens"
  },
  "copyNumberEvent": {
    "text": "deletion"
  }
}