A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256907



Internal ID22279685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:108276457..108307815hg38UCSC Ensembl
Outerchr13:108928805..108960163hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg3831359
hg1931359
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210752
Supporting Variants
SamplesNA19239
Known GenesTNFSF13B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256907
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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