A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7547n223



Internal ID22810515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:5079701..5090500hg38UCSC Ensembl
chr9:5079701..5090500hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg3810800
hg1910800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6435126, nsv6415981, nsv6423144
Samples
Known GenesJAK2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv7547n223
Frequency
Sample Size19652
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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