A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589108



Internal ID16029831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:44721714..44796741hg38UCSC Ensembl
Innerchr22:45117594..45192621hg19UCSC Ensembl
Innerchr22:43496258..43571285hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3875028
hg1975028
hg1875028
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv957188
Samples
Known GenesARHGAP8, PRR5, PRR5-ARHGAP8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589108
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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