| ARCHETYPE ID | openEHR-EHR-CLUSTER.copy_number_variant.v0 |
|---|---|
| Concept | Genetic copy number variant |
| Description | Describes a copy number variant, where any part of a genome was deleted or duplicated (gain or loss of an allele). |
| Use | Use to record the findings for a copy number variant observed in a genetic sequence. This archetype has been specifically designed to be used in the 'Variant' SLOT within the CLUSTER.genetic_variant archetype, but can also be used within other ENTRY or CLUSTER archetypes, where clinically appropriate. |
| Purpose | To record the details about a copy number variant observed in a genetic sequence. |
| References | |
| Copyright | © openEHR Foundation |
| Authors | Author name: Gideon Giacomelli Organisation: Charité Berlin, Germany Email: gideon.giacomelli@charite.de Date originally authored: 2019-02-01 |
| Other Details Language | Author name: Gideon Giacomelli Organisation: Charité Berlin, Germany Email: gideon.giacomelli@charite.de Date originally authored: 2019-02-01 |
| Other Details (Language Independent) |
|
| Keywords | |
| Lifecycle | in_development |
| UID | aef2cdc1-2a43-4224-a1a1-8c922edbb758 |
| Language used | en |
| Citeable Identifier | 1013.1.2339 |
| Revision Number | 0.0.1-alpha |
| items | |
| Start position | Start position: Start position on the given reference sequence. Number should not be treated as an absolute more as an estimation. |
| End position | End position: End position on the given reference sequence. Number should not be treated as an absolute more as an estimation. |
| Total copy number | Total copy number: Number of appearance of the allele. |
| Copy number change type | Copy number change type: Any copy number variant results in a gain or loss of the region e.g. a loss could result that a hetergozygous locus becomes homozygous since one gene was deleted.
|
| Reference sequence | Reference sequence: Structured details about the reference sequence. Should be a specific chromosome most of the time. Include: openEHR-EHR-CLUSTER.reference_ |
| Other contributors | Cecilia Mascia, CRS4, Italy 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 |
| Translators |
|