ARCHETYPE Deletion variant (openEHR-EHR-CLUSTER.deletion_variant_local.v0)

ARCHETYPE IDopenEHR-EHR-CLUSTER.deletion_variant_local.v0
ConceptDeletion variant
DescriptionA sequence change where, compared to a reference sequence, one or more nucleotides are not present (deleted).
PurposeTo describe a deletion 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: cecilia.mascia@crs4.it
Date originally authored: 2017-02-23
Other Details LanguageAuthor name: Cecilia Mascia
Organisation: CRS4, Italy
Email: cecilia.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=9BCA7F2C7AAADAF73E7D1BC287B14E38, build_uid=cafc5a1e-de90-4c2f-851d-6de65981d612, revision=0.0.1-alpha}
Keywordsdeletion, variation, genetic, genomic, variant
Lifecyclein_development
UID483a0e2c-36ab-4e2c-a044-d149ffaa2f93
Language useden
Citeable Identifier867.109.31
Revision Number0.0.1-alpha
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Gianluigi Zanetti, CRS4, Italy
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