NHS North West Genomics
2.2.0 - ci-build
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
| Official URL: https://fhir.nwgenomics.nhs.uk/ValueSet/IGeneVariantCategoryVS | Version: 2.2.0 | ||||
| Draft as of 2026-09-20 | Computable Name: IGeneVariantCategoryVS | ||||
iGene's five variant-type categories - see the IGeneVariantCategory CodeSystem.
References
https://fhir.nwgenomics.nhs.uk/CodeSystem/IGeneVariantCategory version 📦2.2.0
Expansion performed internally based on codesystem iGene Variant Category v2.2.0 (CodeSystem)
This value set contains 5 concepts
| System | Code | Display (en) | Definition | JSON | XML |
https://fhir.nwgenomics.nhs.uk/CodeSystem/IGeneVariantCategory | SEQV | Sequence Variant | A small-scale change in the DNA sequence at a specific gene/transcript location - substitution, insertion, deletion or indel. | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/IGeneVariantCategory | ICNV | Intragenic Copy Number Variant | A copy-number change (gain or loss) contained within a single gene, e.g. loss of one or more exons. | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/IGeneVariantCategory | MCNV | Multigenic Copy Number Variant | A copy-number change spanning a larger region covering multiple genes or a chromosome band. | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/IGeneVariantCategory | SV | Structural Variant | A large-scale rearrangement (translocation, inversion, complex event) that is not necessarily a simple copy-number gain or loss. | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/IGeneVariantCategory | LOH | Loss of Heterozygosity | One parental copy of a region is lost or indistinguishable from the other - modelled as a separate Molecular Consequence Observation, not on Variant itself (see MolecularConsequence.fsh). |