A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243919



Internal ID22375709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144650327..144691839hg38UCSC Ensembl
Outerchr8:145875712..145917224hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg383081
hg193081
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279982, nssv14279983, nssv14279980, nssv14279984, nssv14279981
SamplesHG00512, NA19238, HG00731, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243919
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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