A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253555



Internal ID22198167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:127872398..127882766hg38UCSC Ensembl
Outerchr11:127742293..127752661hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3810369
hg1910369
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217401
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253555
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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