A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17706364



Internal ID130030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:3442675..3450714hg38UCSC Ensembl
chr16:3492675..3500714hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg388040
hg198040
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5533533
Supporting Variants
Samples
Known GenesNAA60, ZNF597
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17706364
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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