A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14372859



Internal ID22138716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:84127734..84132374hg38UCSC Ensembl
chr16:84161339..84165979hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg384641
hg194641
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216341
Supporting Variants
SamplesHG00513
Known GenesHSDL1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14372859
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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