A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18231350



Internal ID20798390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:5079701..5088800hg38UCSC Ensembl
chr9:5079701..5088800hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg389100
hg199100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6423144
Supporting Variants
Samples
Known GenesJAK2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18231350
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00028


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