A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257121



Internal ID22283184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:71888180..71916966hg38UCSC Ensembl
Outerchr13:72462318..72491104hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3828787
hg1928787
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221733
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257121
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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