A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234547



Internal ID22373064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:72109316..72121415hg38UCSC Ensembl
Outerchr8:73021551..73033650hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg381814
hg191814
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9212n152
Supporting Variantsnssv14280556, nssv14280551, nssv14280557, nssv14280555, nssv14280552, nssv14280553, nssv14280554
SamplesHG00512, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234547
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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