A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237597



Internal ID22373916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:17046099..17062911hg38UCSC Ensembl
Outerchr11:17067646..17084458hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38938
hg19938
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254011, nssv14254010, nssv14254012, nssv14254013
SamplesNA19239, HG00731, HG00732, HG00513
Known GenesOR7E14P
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237597
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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