A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244526



Internal ID22375886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:71427244..71493803hg38UCSC Ensembl
Outerchr8:72339479..72406038hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg386006
hg196006
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280399, nssv14280398, nssv14280397, nssv14280396, nssv14280394, nssv14280395
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244526
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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