A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223787



Internal ID22367455
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253514, nssv14253513, nssv14253515
SamplesHG00731, HG00732, HG00733
Known GenesOR51A2, OR51A4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223787
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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