NHS North West Genomics
2.2.0 - ci-build
NHS North West Genomics - Local Development build (v2.2.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions
Profile: Variant (Observation)
identifier: ctdna9737383222-sv1
status: Final
category: Genetics, Laboratory
code: Genetic variant assessment
subject: Rob LEEDS (official) Male, DoB: 1978-01-17 ( Medical record number)
effective: 2026-07-14 15:59:16+0000
performer: PractitionerRole
value: Present
method: Sequencing
component
code: Variant category
value: Structural Variant
component
code: Genomic reference sequence [ID]
value: NC_000023.10
component
code: Genomic coordinate system [Type]
value: 1-based character counting
component
code: Genomic ref allele [ID]
value: T
component
code: Genomic alt allele [ID]
value: <DEL>
component
code: DNA change type
value: deletion
component
code: Genomic DNA change (gHGVS)
value: g.100652797_153792676del
component
code: Genetic variation clinical significance [Imp]
value: Pathogenic
component
code: Structural variant inner start and end
value: 100652796-153792676
component
code: Sample variant allelic frequency [NFr]
value: 0.33 decimal