A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17707546



Internal ID131212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:68004544..68046489hg38UCSC Ensembl
chr16:68038447..68080392hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3841946
hg1941946
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5527066
Supporting Variants
Samples
Known GenesDDX28, DUS2, LOC100131303
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17707546
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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