A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260708



Internal ID22279146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:66263034..66298051hg38UCSC Ensembl
Outerchr16:66296937..66331954hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg386144
hg196144
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237785
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260708
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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