ARCHETYPE Genomic copy number variant (openEHR-EHR-CLUSTER.genomic_copy_number_variant.v1)

ARCHETYPE IDopenEHR-EHR-CLUSTER.genomic_copy_number_variant.v1
ConceptGenomic copy number variant
DescriptionA human genetic sequence change where, compared to a genomic reference sequence, a DNA segment, usually larger than 1 kilobase (kb), was deleted or duplicated.
UseUse 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.
MisuseNot 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.
PurposeTo record the details about a copy number variant of human DNA, observed in a genomic sequence.
References
Copyright© openEHR Foundation
AuthorsAuthor name: Gideon Giacomelli
Organisation: Charité Berlin, Germany
Email: gideon.giacomelli@charite.de
Date originally authored: 2019-02-01
Other Details LanguageAuthor 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, original_namespace=org.openehr, original_publisher=openEHR Foundation, custodian_namespace=org.openehr, MD5-CAM-1.0.1=81D9081AD9AFCDFD0D4F0620423C7D50, build_uid=3abb9f87-e647-4b21-b31b-147570134652, revision=1.0.1}
Keywordscopy number, variation, genetic, genomic, variant
Lifecyclepublished
UID69e173a1-6963-4313-a500-669da9fc11b4
Language useden
Citeable Identifier1246.145.738
Revision Number1.0.1
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Christina Jaeger-Schmidt, Heidelberg University Hospital, Germany
Florian Kaercher, Charité Berlin, Germany
Francesca Frexia, CRS4, Italy
Gianluigi Zanetti, CRS4, Italy
Heather Leslie, Atomica Informatics, Australia (openEHR Editor)
Paolo Uva, CRS4, Italy
Silje Ljosland Bakke, Nasjonal IKT HF, Norway (openEHR Editor)
Simon Schumacher, HiGHmed, Germany
Gunnar Houge, Haukeland University Hospital, Norway
Gyri Aasland Gradek, Haukeland University Hospital, Norway
Asbjørg Stray-Pedersen, Oslo University Hospital, Norway
Toril Fagerheim, University Hospital of North Norway, Norway
Camilla F. Skjelbred, Telemark HF Hospital, Norway
Dag Erik Undlien, Oslo University Hospital, Norway
Rune Østern, St Olavs Hospital, Norway, originalLanguage=en, translators=German: Aurelie Tomczak, Natalia Strauch, Institute of Pathology, University Hospital Heidelberg, Germany; Medizinische Hochschule Hannover, au.tomczak@yahoo.com, Strauch.Natalia@mh-hannover.de
Norwegian Bokmål: Liv Laugen, ​Oslo University Hospital, Norway, liv.laugen@ous-hf.no
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  • Gain [A sequence alteration whereby the copy number of a given region is greater than the reference sequence.]
  • Loss [A sequence alteration whereby the copy number of a given region is less than the reference sequence.]
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  • Gain [A sequence alteration whereby the copy number of a given region is greater than the reference sequence.]
  • Loss [A sequence alteration whereby the copy number of a given region is less than the reference sequence.]
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