A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253848



Internal ID22270797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:6157298..6175807hg38UCSC Ensembl
Outerchr11:6178528..6197037hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3818510
hg1918510
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212822
Supporting Variants
SamplesNA19239
Known GenesOR52B2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253848
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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