A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17186503



Internal ID21634012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:5127040..5127040hg38UCSC Ensembl
chr9:5127040..5127040hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5694639
Supporting Variants
Samples
Known GenesJAK2
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17186503
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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