A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249129



Internal ID22377183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:130885448..130900807hg38UCSC Ensembl
Outerchr8:131897694..131913053hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg381307
hg191307
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280665, nssv14280668, nssv14280663, nssv14280501, nssv14280667, nssv14280664, nssv14280502, nssv14280669, nssv14280666
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesADCY8
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249129
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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