A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16929799



Internal ID20599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:8614000..8718000hg38UCSC Ensembl
chr3:8655686..8759686hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg38104001
hg19104001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5444782
Supporting Variants
Samples
Known GenesSSUH2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16929799
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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