A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17707274



Internal ID130940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28652200..28776243hg38UCSC Ensembl
chr16:28663521..28787564hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38124044
hg19124044
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6145161
Supporting Variants
Samples
Known GenesEIF3C, EIF3CL, MIR6862-1, MIR6862-2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17707274
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00506


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