A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257178



Internal ID22255787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:48896940..48916984hg38UCSC Ensembl
Outerchr14:49366143..49386187hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3820045
hg1920045
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213089
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257178
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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