A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589111



Internal ID16029834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:44739486..44741601hg38UCSC Ensembl
Innerchr22:45135366..45137481hg19UCSC Ensembl
Innerchr22:43514030..43516145hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg382116
hg192116
hg182116
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8122n54
Supporting Variantsnssv957191, nssv957192
Samples
Known GenesPRR5-ARHGAP8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589111
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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