Sequence-genetics-example4.xml

Example for structutal variant (id = "seq4")

<Sequence xmlns="http://hl7.org/fhir">
    <id value="seq4"/>
    <text><status value="generated"/><div xmlns="http://www.w3.org/1999/xhtml"><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></text><type value="DNA"/>
    <variationID>
        <coding>
            <system value="http://www.ncbi.nlm.nih.gov/dbvar/"/>
            <code value="essv25820997"/>
        </coding>
        <text value="essv25820997"/>
    </variationID>
    <referenceSeq>
        <coding>
            <system value="http://www.ncbi.nlm.nih.gov/nuccore/"/>
            <code value="NC_000007.14"/>
        </coding>
        <text value="NC_000007.14"/>
    </referenceSeq>
    <coordinate>
        <chromosome>
            <coding>
                <code value="7"/>
            </coding>
        </chromosome>
        <start value="87627621"/>
        <end value="87642522"/>
        <genomeBuild>
            <text value="GRCh38"/>
        </genomeBuild>
    </coordinate>
    <species>
        <coding>
            <system value="http://snomed.info/sct"/>
            <code value="337915000"/>
        </coding>
        <text value="Homo sapiens"/>
    </species>
    <copyNumberEvent>
        <text value="deletion"/>
    </copyNumberEvent>
</Sequence>