A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253368



Internal ID22298582
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3246816
Supporting Variants
SamplesNA19240
Known GenesOR51A2, OR51A4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253368
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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