A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17028059



Internal ID86403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:129130435..129132569hg38UCSC Ensembl
chr9:131892714..131894848hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg382135
hg192135
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5492238
Supporting Variants
Samples
Known GenesPPP2R4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17028059
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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