A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279100



Internal ID22199130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:82255607..82325667hg38UCSC Ensembl
Outerchr8:83167842..83237902hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg3870061
hg1970061
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223233
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279100
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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