A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253514



Internal ID22202146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:4931191..4972994hg38UCSC Ensembl
Outerchr11:4952421..4994224hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3841804
hg1941804
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223787
Supporting Variants
SamplesHG00732
Known GenesOR51A2, OR51A4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253514
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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