A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260704



Internal ID22322658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:47778552..47779718hg38UCSC Ensembl
Outerchr16:47812463..47813629hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg389832
hg199832
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3243019
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260704
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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