A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3114790



Internal ID21298056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:41089305..41095111hg38UCSC Ensembl
Innerchr22:41485309..41491115hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg385807
hg195807
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14103010
Samplessample275
Known GenesEP300, MIR1281
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3114790
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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