ARCHETYPE ID | openEHR-EHR-CLUSTER.genomic_copy_number_variant.v1 |
Concept | Genomic copy number variant |
Description | A human genetic sequence change where, compared to a genomic reference sequence, a DNA segment, usually larger than 1 kilobase (kb), was deleted or duplicated. |
Use | Use to record the details about a copy number variant of human DNA, observed in a genomic sequence. This archetype has been specifically designed to be used in the 'Structured variant' SLOT within the CLUSTER.genomic_variant_result archetype, but can also be used within other ENTRY or CLUSTER archetypes, where clinically appropriate. All definitions and examples in this archetype follow the HGVS nomenclature. |
Misuse | Not to be used to record information about variants of non-human DNA, or any kind of RNA or protein. Not to be used to record information about tandem repeats. Use the CLUSTER.genomic_repeated_sequence_variant archetype for this purpose. |
Purpose | To record the details about a copy number variant of human DNA, observed in a genomic sequence. |
References | den Dunnen JT, Dalgleish R, Maglott DR, Hart RK, Greenblatt MS, McGowan-Jordan J, Roux AF, Smith T, Antonarakis SE, Taschner PE. HGVS Recommendations for the Description of Sequence Variants: 2016 Update. Hum Mutat. 2016 Jun;37(6):564-9. doi: 10.1002/humu.22981. Epub 2016 Mar 25. PubMed PMID: 26931183. |
Copyright | © openEHR Foundation |
Authors | Author name: Gideon Giacomelli Organisation: Charité Berlin, Germany Email: gideon.giacomelli@charite.de Date originally authored: 2019-02-01 |
Other Details Language | Author name: Gideon Giacomelli Organisation: Charité Berlin, Germany Email: gideon.giacomelli@charite.de Date originally authored: 2019-02-01 |
OtherDetails Language Independent | {licence=This work is licensed under the Creative Commons Attribution-ShareAlike 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by-sa/4.0/., custodian_organisation=openEHR Foundation, references=den Dunnen JT, Dalgleish R, Maglott DR, Hart RK, Greenblatt MS, McGowan-Jordan J, Roux AF, Smith T, Antonarakis SE, Taschner PE. HGVS Recommendations for the Description of Sequence Variants: 2016 Update. Hum Mutat. 2016 Jun;37(6):564-9. doi: 10.1002/humu.22981. Epub 2016 Mar 25. PubMed PMID: 26931183., original_namespace=org.openehr, original_publisher=openEHR Foundation, custodian_namespace=org.openehr, MD5-CAM-1.0.1=811AEF4A98143C4B70BA9CD97316F80F, build_uid=aa20f6e1-9456-4bfc-b836-f3ef4238e780, revision=1.1.0} |
Keywords | copy number, variation, genetic, genomic, variant, DNA, chromosome, mutation, nucleotide |
Lifecycle | published |
UID | 69e173a1-6963-4313-a500-669da9fc11b4 |
Language used | en |
Citeable Identifier | 1013.1.3750 |
Revision Number | 1.1.0 |
All | Archetype [runtimeNameConstraintForConceptName=null, archetypeConceptBinding=null, archetypeConceptDescription=A human genetic sequence change where, compared to a genomic reference sequence, a DNA segment, usually larger than 1 kilobase (kb), was deleted or duplicated., archetypeConceptComment=null, otherContributors=Gyri Aasland Gradek, Haukeland University Hospital, Norway Vebjørn Arntzen, Oslo University Hospital, Norway (openEHR Editor) Silje Ljosland Bakke, Helse Vest IKT AS, Norway (openEHR Editor) Dag Erik Undlien, Oslo University Hospital, Norway Camilla F. Skjelbred, Telemark HF Hospital, Norway Toril Fagerheim, University Hospital of North Norway, Norway Francesca Frexia, CRS4, Italy Sjur Gjerald, Oslo University Hospital, Norway Gunnar Houge, Haukeland University Hospital, Norway Christina Jaeger-Schmidt, Heidelberg University Hospital, Germany Florian Kaercher, Charité Berlin, Germany Liv Laugen, Oslo University Hospital, Norway, Norway (openEHR Editor) Heather Leslie, Atomica Informatics, Australia (openEHR Editor) Cecilia Mascia, CRS4, Italy (openEHR Editor) Simon Schumacher, HiGHmed, Germany Asbjørg Stray-Pedersen, Oslo University Hospital, Norway Nyree Taylor, Ocean Health Systems, Australia Aurelie Tomczak, Uniklinikum Heidelberg, Germany Paolo Uva, CRS4, Italy Gianluigi Zanetti, CRS4, Italy Rune Østern, St Olavs Hospital, Norway, originalLanguage=en, translators=
openEHR-EHR-CLUSTER.reference_
openEHR-EHR-CLUSTER.reference_ |