A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17018880



Internal ID80217
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 StatusS
Merged Variantsnsv5473942
Supporting Variants
Samples
Known GenesJAK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17018880
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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