A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241499



Internal ID22374985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:60859755..60899869hg38UCSC Ensembl
Outerchr13:61433889..61474003hg19UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg385900
hg195900
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256738, nssv14256736, nssv14256735, nssv14256737, nssv14256739, nssv14256734, nssv14256733
SamplesHG00512, NA19238, 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)nsv3241499
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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