A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589120



Internal ID16029843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:44740285..44741861hg38UCSC Ensembl
Innerchr22:45136165..45137741hg19UCSC Ensembl
Innerchr22:43514829..43516405hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381577
hg191577
hg181577
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv957208
Samples
Known GenesPRR5-ARHGAP8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589120
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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