A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17709513



Internal ID133179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:58293845..58293912hg38UCSC Ensembl
chr16:58327749..58327816hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5517726
Supporting Variants
Samples
Known GenesPRSS54
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17709513
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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