A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17706322



Internal ID129988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28386443..28417243hg38UCSC Ensembl
chr16:28397764..28428564hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3830801
hg1930801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6145912
Supporting Variants
Samples
Known GenesEIF3C, EIF3CL, MIR6862-1, MIR6862-2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17706322
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000342


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