Preferred Label : Genomic Variant Call Format;
NCIt synonyms : Genomic VCF;
NCIt related terms : gVCF; g.vcf; g.vcf.gz;
NCIt definition : A text file format used for storing gene sequence variations. It is a type of variant
call format that has a record for all sites, whether there is a variant call there
or not. The format includes metrics of the confidence that positions are actually
non-variant vs. a factor of minimum read-depth and genotype quality.;
NCI Metathesaurus CUI : CL1926867;
Origin ID : C204352;
UMLS CUI : C5909741;
Semantic type(s)
- concept_is_in_subset
