A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259314



Internal ID22289338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:87779018..87799593hg38UCSC Ensembl
Outerchr16:87812624..87833199hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg3820576
hg1920576
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228802
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259314
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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