A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17028667



Internal ID86812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:125188256..125210234hg38UCSC Ensembl
chr9:127950535..127972513hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg3821979
hg1921979
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5479161
Supporting Variants
Samples
Known GenesPPP6C, RABEPK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17028667
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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