A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279114



Internal ID22225229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:73734575..73772533hg38UCSC Ensembl
Outerchr8:74646810..74684768hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg3837959
hg1937959
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222454
Supporting Variants
SamplesHG00733
Known GenesSTAU2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279114
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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