A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259733



Internal ID22260787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:28584913..28640022hg38UCSC Ensembl
Outerchr16:28596234..28651343hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3813217
hg1913217
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3243544
Supporting Variants
SamplesNA19238
Known GenesCCDC101, SULT1A1, SULT1A2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259733
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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