A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6423144



Internal ID21080697
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 StatusM
Merged Variantsdgv7547n223
Supporting Variantsnssv18231350
Samples
Known GenesJAK2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6423144
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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