A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17706771



Internal ID130437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:2458156..2462479hg38UCSC Ensembl
chr16:2508157..2512480hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg384324
hg194324
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5532228
Supporting Variants
Samples
Known GenesC16orf59, CCNF
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17706771
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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