A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589087



Internal ID16029810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:43152149..43183316hg38UCSC Ensembl
Innerchr22:43548155..43579322hg19UCSC Ensembl
Innerchr22:41878099..41909266hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3831168
hg1931168
hg1831168
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152186
SamplesNINDS_101
Known GenesTSPO, TTLL12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589087
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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