A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259702



Internal ID22274748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:60425816..60448868hg38UCSC Ensembl
Outerchr16:60459720..60482772hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3823053
hg1923053
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214165
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259702
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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