A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17707444



Internal ID131110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:52519471..52519524hg38UCSC Ensembl
chr16:52553383..52553436hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5521537
Supporting Variants
Samples
Known GenesTOX3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17707444
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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