A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473942



Internal ID251622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:5095384..5095447hg38UCSC Ensembl
chr9:5095384..5095447hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17018880
Samples
Known GenesJAK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473942
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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