| ARCHETYPE ID | openEHR-EHR-CLUSTER.insertion_variant.v0 |
|---|---|
| Concept | Insertion variant |
| Description | A 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'. |
| Use | This archetype should be used inside the "Variant" SLOT of the "Genetic variant" archetype. |
| Purpose | To 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 | © openEHR Foundation |
| Authors | Author name: Cecilia Mascia Organisation: CRS4, Italy Email: cecilia.mascia@crs4.it Date originally authored: 2017-02-23 |
| Other Details Language | Author name: Cecilia Mascia Organisation: CRS4, Italy Email: cecilia.mascia@crs4.it Date originally authored: 2017-02-23 |
| Other Details (Language Independent) |
|
| Keywords | insertion, variation, genetic, genomic, variant |
| Lifecycle | in_development |
| UID | 2499e487-498d-4d3c-a8c7-eb8a0203f4ef |
| Language used | en |
| Citeable Identifier | 1013.1.2344 |
| Revision Number | 0.0.1-alpha |
| items | |
| Start position | Start position: The position of the first of the two flanking nucleotides. |
| End position | End position: The position of the last of the two flanking nucleotides. |
| Inserted nucleotide(s) | Inserted nucleotide(s): The sequence inserted between the two flanking nucleotides. |
| Reference sequence | Reference sequence: The sequence file that has been used as a reference to describe the variant. Include: openEHR-EHR-CLUSTER.reference_ |
| Other contributors | 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) Gideon Giacomelli, Charité Berlin, Germany Paolo Uva, CRS4, Italy Silje Ljosland Bakke, Nasjonal IKT HF, Norway (openEHR Editor) Simon Schumacher, HiGHmed, Germany |
| Translators |