A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7548n223



Internal ID22810516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:5079701..5119800hg38UCSC Ensembl
chr9:5079701..5119800hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg3840100
hg1940100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6423346, nsv6417293
Samples
Known GenesJAK2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv7548n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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