A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239153



Internal ID22374347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:68251929..68266434hg38UCSC Ensembl
Outerchr11:68019397..68033902hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38884
hg19884
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255049, nssv14255050, nssv14255046, nssv14255051, nssv14255054, nssv14255048, nssv14255053, nssv14255052, nssv14255047
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesC11orf24
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239153
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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