A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216341



Internal ID22362363
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14381115, nssv14372859, nssv14373045
SamplesHG00512, HG00513, HG00514
Known GenesHSDL1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216341
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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