A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589122



Internal ID16376531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:44823307..44862577hg38UCSC Ensembl
Innerchr22:45219187..45258457hg19UCSC Ensembl
Innerchr22:43597851..43637121hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3839271
hg1939271
hg1839271
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152195
SamplesHGDP00160
Known GenesARHGAP8, PRR5-ARHGAP8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589122
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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