ARCHETYPE Inversion variant (openEHR-EHR-CLUSTER.inversion_variant.v0)

ARCHETYPE IDopenEHR-EHR-CLUSTER.inversion_variant.v0
ConceptInversion variant
DescriptionA sequence change where, compared to a reference sequence, more than one nucleotide replacing the original sequence are the reverse complement of the original sequence.
PurposeTo describe an inversion 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: CRS4, Italy
Email: ceciia.mascia@crs4.it
Date originally authored: 2017-02-23
Other Details LanguageAuthor name: Cecilia Mascia
Organisation: CRS4, Italy
Email: ceciia.mascia@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=8BD9D6C7C64E83C5059D4B6CD2C22826, build_uid=eb09b81f-f00c-49f0-ae51-f94b95fee4bc, revision=0.0.1-alpha}
Keywordsinversion, variation, genetic, genomic, variant
Lifecyclein_development
UID26a300b6-44e9-415b-817e-7cbeaac0b48a
Language useden
Citeable Identifier867.109.35
Revision Number0.0.1-alpha
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Gianluigi Zanetti, CRS4, Italy
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