A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282232



Internal ID22116823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:122099116..122109598hg38UCSC Ensembl
Outerchr8:123111355..123121837hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3810483
hg1910483
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217456
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282232
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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