A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246816



Internal ID22376537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:4931191..4972994hg38UCSC Ensembl
Outerchr11:4952421..4994224hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg388325
hg198325
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253366, nssv14253368, nssv14253367
SamplesNA19238, NA19239, NA19240
Known GenesOR51A2, OR51A4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246816
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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