A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16952608



Internal ID35763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:83303758..83316318hg38UCSC Ensembl
chr4:84224911..84237471hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg3812561
hg1912561
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5463650
Supporting Variants
Samples
Known GenesHPSE
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16952608
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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