A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280399



Internal ID22317244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:71427244..71493803hg38UCSC Ensembl
Outerchr8:72339479..72406038hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg386006
hg196006
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244526
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280399
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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