A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517763



Internal ID294177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:58077191..58171294hg38UCSC Ensembl
chr16:58111095..58205198hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3894104
hg1994104
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17709502
Samples
Known GenesC16orf80, CSNK2A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517763
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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