A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258682



Internal ID22221743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:11577656..11596295hg38UCSC Ensembl
Outerchr16:11671512..11690151hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg3818640
hg1918640
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228919
Supporting Variants
SamplesHG00733
Known GenesLITAF
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258682
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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