A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8323



Internal ID15499549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:22984995..22987491hg38UCSC Ensembl
Outerchr8:22842508..22845004hg19UCSC Ensembl
Outerchr8:22898453..22900949hg18UCSC Ensembl
Outerchr8:22898453..22900949hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg382497
hg192497
hg182497
hg172497
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv21150, nssv19527
SamplesNA19221, NA19132
Known GenesRHOBTB2
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nsv8323
Frequency
Sample Size31
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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