A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248686



Internal ID22377053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:118798162..118817537hg38UCSC Ensembl
Outerchr11:118668871..118688246hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381135
hg191135
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1591n152
Supporting Variantsnssv14254905, nssv14254902, nssv14254901, nssv14254904, nssv14254906, nssv14254909, nssv14254908, nssv14254907, nssv14254903
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)nsv3248686
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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