A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3118098



Internal ID21301364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17157446..17163075hg38UCSC Ensembl
Innerchr22:17638336..17643965hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg385630
hg195630
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14103057
Samplessample296
Known GenesCECR5, CECR5-AS1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3118098
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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