A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278882



Internal ID22131077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:137637342..137733308hg38UCSC Ensembl
Outerchr8:138649585..138745551hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg3895967
hg1995967
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220078
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278882
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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