A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230599



Internal ID22371973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:136950651..136959068hg38UCSC Ensembl
Outerchr8:137962894..137971311hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg381518
hg191518
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280586, nssv14280588, nssv14280585, nssv14280584, nssv14280587, nssv14280589
SamplesNA19239, HG00731, HG00732, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230599
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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