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This repository was archived by the owner on Apr 28, 2025. It is now read-only.
This repository was archived by the owner on Apr 28, 2025. It is now read-only.

Some variation descriptors do not have a variant #748

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@theferrit32

Probably some error happened when ingesting this variant from clinvar-raw which wasn't checked for and didn't cause an exception, so the variation descriptor was still added, just with no variant. This one is absolute CNV, which we should be able to parse.

{:msg "nil variation type",
 :descriptor {:description "GRCh37/hg19 17q12(chr17:36059104-36244358)x3",
              :subject_variation_descriptor (),
              :type "CanonicalVariationDescriptor",
              :xrefs ["https://www.ncbi.nlm.nih.gov/clinvar/153916" "https://identifiers.org/clinvar:153916"],
              :alternate_labels [],
              :canonical_variation nil,
              :record_metadata {:type "RecordMetadata",
                                :is_version_of "http://dataexchange.clinicalgenome.org/terms/VariationDescriptor_153916",
                                :version "2019-09-02"},
              :extensions ({:type "Extension", :name "variation_type", :value "copy number gain"} {:type "Extension", :name "entity_type", :value "variation"} {:type "Extension", :name "protein_change", :value []} {:type "Extension", :name "clingen_version", :value 0} {:type "Extension", :name "child_ids", :value []} {:type "Extension", :name "allele_id", :value "163667"} {:type "Extension", :name "subclass_type", :value "SimpleAllele"} {:type "Extension", :name "clinvar_variation", :value "https://identifiers.org/clinvar:153916"} {:type "Extension", :name "descendant_ids", :value []} {:type "Extension", :name "canonical_expression", :value nil} {:type "Extension", :name "candidate_expressions", :value ()}),
              :label "GRCh37/hg19 17q12(chr17:36059104-36244358)x3",
              :id "http://dataexchange.clinicalgenome.org/terms/VariationDescriptor_153916.2019-09-02",
              :members [{:type "VariationMember", :expressions [{:type "Expression", :syntax "hgvs.g", :value "NC_000017.10:g.(?_36059104)_(36244358_?)dup"}]}]},
 :line 347}

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