STU3 Candidate

This page is part of the FHIR Specification (v1.8.0: STU 3 Draft). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions . Page versions: R5 R4B R4 R3

Sequence-complex-variant.xml

Raw XML (canonical form)

Example of representing complex variants in Sequence Resource (id = "sequence-complex-variant")

<Sequence xmlns="http://hl7.org/fhir">
    <id value="sequence-complex-variant"/>
    <text><status value="generated"/><div xmlns="http://www.w3.org/1999/xhtml"><p><b>Generated Narrative with Details</b></p><p><b>id</b>: sequence-complex-variant</p><p><b>type</b>: DNA</p><p><b>coordinateSystem</b>: 1</p><h3>ReferenceSeqs</h3><table><tr><td>-</td><td><b>ReferenceSeqId</b></td><td><b>Strand</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td>*</td><td>NC_000002.12 <span>(Details : {http://www.ncbi.nlm.nih.gov/nuccore code 'NC_000002.12' = 'NC_000002.12)</span></td><td>1</td><td>128273724</td><td>128273754</td></tr></table><h3>Variants</h3><table><tr><td>-</td><td><b>Start</b></td><td><b>End</b></td><td><b>ObservedAllele</b></td><td><b>ReferenceAllele</b></td><td><b>Cigar</b></td></tr><tr><td>*</td><td>128273724</td><td>128273736</td><td>CTCATTGT</td><td>CTCCATTGCATGCGTT</td><td>3M1D4M6N2M</td></tr></table></div></text><type value="DNA"/>
    <coordinateSystem value="1"/>
    <referenceSeq>
        <referenceSeqId>
          <coding>
            <system value="http://www.ncbi.nlm.nih.gov/nuccore"/>
            <code value="NC_000002.12"/>
          </coding>
        </referenceSeqId>
        <strand value="1"/>
        <windowStart value="128273724"/>
        <windowEnd value="128273754"/>
    </referenceSeq>
    <variant>
        <start value="128273724"/>
        <end value="128273736"/>
        <observedAllele value="CTCATTGT"/>
        <referenceAllele value="CTCCATTGCATGCGTT"/>
        <cigar value="3M1D4M6N2M"/>
    </variant>
    
</Sequence>

Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.