A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268763



Internal ID22272861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44967583..45000717hg38UCSC Ensembl
Outerchr21:46387498..46420632hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381215
hg191215
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3243164
Supporting Variants
SamplesNA19239
Known GenesFAM207A, LINC00162, LINC00163
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268763
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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