A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273336



Internal ID22279815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:181272960..181288658hg38UCSC Ensembl
Outerchr5:180699961..180715659hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3815699
hg1915699
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202618
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273336
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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