Update classifications-and-ontologies.md

progenetix · Dec 7, 2023 · 2337bdd · 2337bdd
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@@ -152,6 +152,7 @@ This table is maintained in parallel with the [Beacon v2 documentation](http://d
 | [`EFO:0030068`](http://www.ebi.ac.uk/efo/EFO_0030068) low-level copy number loss  | `DEL`[^2] or<br/><nobr>[`EFO:0030068`](http://www.ebi.ac.uk/efo/EFO_0030068)</nobr> | `DEL`<br/><nobr>`SVCLAIM=D`[^3]</nobr> | [`SO:0001743`](http://www.sequenceontology.org/browser/current_release/term/SO:0001743) copy_number_loss | <nobr>[`EFO:0030068`](http://www.ebi.ac.uk/efo/EFO_0030068)</nobr> low-level loss  |                                                                                             |
 | [`EFO:0020073`](http://www.ebi.ac.uk/efo/EFO_0020073) high-level copy number loss  | `DEL`[^2] or<br/><nobr>[`EFO:0020073`](https://github.com/EBISPOT/efo/issues/1941)</nobr> | `DEL`<br/><nobr>`SVCLAIM=D`[^3]</nobr> | [`SO:0001743`](http://www.sequenceontology.org/browser/current_release/term/SO:0001743) copy_number_loss | <nobr>[`EFO:0020073`](https://github.com/EBISPOT/efo/issues/1941)</nobr> high-level loss  | a loss of several copies; also used in cases where a complete genomic deletion cannot be asserted |
 | [`EFO:0030069`](http://www.ebi.ac.uk/efo/EFO_0030069) complete genomic deletion   | `DEL`[^2] or<br/><nobr>[`EFO:0030069`](http://www.ebi.ac.uk/efo/EFO_0030069)</nobr> | `DEL`<br/><nobr>`SVCLAIM=D`[^3]</nobr> | [`SO:0001743`](http://www.sequenceontology.org/browser/current_release/term/SO:0001743) copy_number_loss | <nobr>[`EFO:0030069`](http://www.ebi.ac.uk/efo/EFO_0030069)</nobr> complete genomic loss   | complete genomic deletion (e.g. homozygous deletion on a bi-allelic genome region)                                          |
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 ## Sequence Variation (SNV Ontology)
 ```
@@ -221,6 +222,7 @@ label: sequence_alteration
       |-id: SO:0001483
         label: SNV (single nucleotide variant)
 ```
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 | [Sequence Ontology](http://www.sequenceontology.org/) | Definition |
 | ------------------------------------------- | --------------------------------------------- |
 | [`SO:0001059`](http://www.sequenceontology.org/browser/current_release/term/SO:0001059) sequence_alteration | A sequence alteration is a sequence feature whose extent is the deviation from another sequence. |