ARCHETYPE Insertion variant (openEHR-EHR-CLUSTER.insertion_variant_local.v0)

ARCHETYPE IDopenEHR-EHR-CLUSTER.insertion_variant_local.v0
ConceptInsertion variant
DescriptionA sequence change where, compared to the reference sequence, one or more nucleotides are inserted and where the insertion is not a copy of a sequence immediately 5'
PurposeTo describe an insertion variant observed in a sequence according to the HGVS nomenclature.
References"Den Dunnen et al. (2016) HGVS recommendations for the description of sequence variants: 2016 update. Hum.Mutat. 25: 37: 564-569 "
Copyright© HiGHmed
AuthorsAuthor name: Cecilia Mascia
Organisation: CSR4, Italy
Email: cmascia@crs4.it
Date originally authored: 2017-02-23
Other Details LanguageAuthor name: Cecilia Mascia
Organisation: CSR4, Italy
Email: cmascia@crs4.it
Date originally authored: 2017-02-23
OtherDetails Language Independent{licence=This work is licensed under the Creative Commons Attribution-ShareAlike 3.0 License. To view a copy of this license, visit http://creativecommons.org/licenses/by-sa/3.0/., custodian_organisation=HiGHmed, references="Den Dunnen et al. (2016) HGVS recommendations for the description of sequence variants: 2016 update. Hum.Mutat. 25: 37: 564-569 ", original_namespace=org.highmed, original_publisher=HiGHmed, custodian_namespace=org.highmed, MD5-CAM-1.0.1=0B9DA5CA4DE616A3F7ED423BFB1D7A47, build_uid=17cbaf77-8d1e-4c44-8f13-8f02368e30a7, revision=0.0.1-alpha}
Keywordsinsertion, variation, genetic, genomic, variant
Lifecyclein_development
UIDc30335fb-e1f5-4a88-b90a-b1a3cb314425
Language useden
Citeable Identifier867.109.34
Revision Number0.0.1-alpha
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Gianluigi Zanetti, CSR4, Italy
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