A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253545



Internal ID22219931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:82134811..82290393hg38UCSC Ensembl
Outerchr11:81845853..82001435hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38155583
hg19155583
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225284
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253545
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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