A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236660



Internal ID22373656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:128716278..128734124hg38UCSC Ensembl
Outerchr8:129728524..129746370hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg383264
hg193264
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280485, nssv14280482, nssv14280483, nssv14280484
SamplesNA19238, HG00731, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236660
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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