Closed ielis closed 3 months ago
@ielis @pnrobinson Is this issue needed when we have another that should cover this? Or is the legacy CNV some how different than other structural variants?
No, this is indeed a duplicate of #156. Let's close it and deal with the issue elsewhere.
Not all phenopackets include variants with exact CNV coordinates and sometimes all we have is a gene and a Sequence Ontology term (e.g. )
For instance PMID_36446582_Novara2017_P2 includes the following genomic interpretation:
We only know about a chromosomal_deletion of ANKRD11.
We need to devise a strategy for including such CNVs into the analysis.