Release 5 Preview #3

Sequence-complex-variant

Clinical Genomics Work GroupMaturity Level: N/AStandards Status: InformativeCompartments: Patient

This is the narrative for the resource. See also the XML, JSON or Turtle format. This example conforms to the profile MolecularSequence.


Generated Narrative

id: sequence-complex-variant

identifier: id: ?ngen-9? (OFFICIAL)

type: dna

coordinateSystem: 1

specimen: Molecular Specimen ID: MLD45-Z4-1234

device: 12 lead EKG Device Metric

performer: HL7. Generated Summary: id: hl7; name: Health Level Seven International; alias: HL7 International; ph: (+1) 734-677-7777, fax: (+1) 734-677-6622, hq@HL7.org

quantity: 25

ReferenceSeqs

-ReferenceSeqIdStrandWindowStartWindowEnd
*NC_000002.12watson128273724128273754

Variants

-StartEndObservedAlleleReferenceAlleleCigar
*128273724128273736CTCATTGTCTCCATTGCATGCGTT3M1D4M6N2M

readCoverage: 1

Repositories

-TypeDatasetIdReadsetId
*otherEnsemblv1beta2

 

 

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.