A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280613



Internal ID22317032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:57428626..57498203hg38UCSC Ensembl
Outerchr8:58341185..58410762hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg382486
hg192486
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3239676
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280613
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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