A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237465



Internal ID22373881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:114803811..114849205hg38UCSC Ensembl
Outerchr11:114674533..114719927hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381757
hg191757
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254874, nssv14254878, nssv14254870, nssv14254877, nssv14254876, nssv14254873, nssv14254871, nssv14254875, nssv14254872
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237465
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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