A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589141



Internal ID16376550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:47133514..47186735hg38UCSC Ensembl
Innerchr22:47529157..47582486hg19UCSC Ensembl
Innerchr22:45907821..45961150hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3853222
hg1953330
hg1853330
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv957224
Samples
Known GenesTBC1D22A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589141
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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