A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5492360



Internal ID269575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:4273317..4420917hg38UCSC Ensembl
chr9:4273317..4420917hg19UCSC Ensembl
Cytoband9p24.2
Allele length
AssemblyAllele length
hg38147601
hg19147601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17017856
Samples
Known GenesGLIS3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5492360
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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