Genomics Reporting Implementation Guide
3.0.0 - STU3 International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0: STU3) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version. For a full list of available versions, see the Directory of published versions

Example Observation: ExampleGermlineCNV

Generated Narrative: Observation ExampleGermlineCNV

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Adam B. Everyman Male, DoB: 1951-01-20 ( Medical Record Number: m123 (use: usual, ))

effective: 2019-04-01

performer: Organization some lab

value: Present

method: Sequencing

component

code: DNA change type

value: copy_number_variation

component

code: Genomic ref allele [ID]

value: T

component

code: Genomic source class [Type]

value: Germline

component

code: Genomic reference sequence [ID]

value: NC_000022.10

component

code: Genomic structural variant copy number

value: 3 1 (Details: UCUM code1 = '1')

component

code: Genomic coordinate system [Type]

value: 1-based character counting

component

code: Structural variant inner start and end

value: 42523949-42533891

component

code: Origin of germline genetic variant [Type]

value: Maternal

component

code: Basis for allelic phase [Type]

value: Directly measured