A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280986



Internal ID22134849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:93051463..93079899hg38UCSC Ensembl
Outerchr8:94063691..94092128hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3828437
hg1928438
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213454
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280986
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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