A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589121



Internal ID16376530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:44780091..44862577hg38UCSC Ensembl
Innerchr22:45175971..45258457hg19UCSC Ensembl
Innerchr22:43554635..43637121hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3882487
hg1982487
hg1882487
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152194
SamplesHGDP00629
Known GenesARHGAP8, PRR5-ARHGAP8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589121
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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