A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3111472



Internal ID21294738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:31487386..31492379hg38UCSC Ensembl
Innerchr22:31883372..31888365hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg384994
hg194994
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14103602
Samplessample163
Known GenesEIF4ENIF1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3111472
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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