A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589137



Internal ID16029860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:46395229..46730787hg38UCSC Ensembl
Innerchr22:46791126..47126684hg19UCSC Ensembl
Innerchr22:45169790..45505348hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38335559
hg19335559
hg18335559
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv957222
Samples
Known GenesCELSR1, CERK, GRAMD4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589137
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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