A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16973866



Internal ID49953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:120053559..120070303hg38UCSC Ensembl
chr5:119389254..119405998hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3816745
hg1916745
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5465303
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16973866
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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