A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589131



Internal ID16376540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:45833839..45863180hg38UCSC Ensembl
Innerchr22:46229719..46259060hg19UCSC Ensembl
Innerchr22:44608383..44637724hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3829342
hg1929342
hg1829342
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv957217
Samples
Known GenesATXN10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589131
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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