A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588298



Internal ID16375707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20583248..20721249hg38UCSC Ensembl
Innerchr22:20937535..21075537hg19UCSC Ensembl
Innerchr22:19267535..19405537hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38138002
hg19138003
hg18138003
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv951947
Samples
Known GenesMED15, PI4KA, POM121L4P, TMEM191A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588298
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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