A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5475813



Internal ID253445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:125159738..125228728hg38UCSC Ensembl
chr9:127922017..127991007hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg3868991
hg1968991
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17028658
Samples
Known GenesPPP6C, RABEPK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5475813
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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