A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259703



Internal ID22276061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:66699860..66708968hg38UCSC Ensembl
Outerchr16:66733763..66742871hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg389109
hg199109
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222880
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259703
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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