A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259266



Internal ID22256293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:60869423..60899256hg38UCSC Ensembl
Outerchr16:60903327..60933160hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3829834
hg1929834
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229432
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259266
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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