A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117430



Internal ID21300696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:26165987..26174915hg38UCSC Ensembl
Innerchr22:26561953..26570881hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg388929
hg198929
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14103887
Samplessample360
Known GenesSEZ6L
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117430
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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