A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21150



Internal ID15497520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:22986033..22986687hg38UCSC Ensembl
Outerchr8:22984995..22987491hg38UCSC Ensembl
Innerchr8:22843546..22844200hg19UCSC Ensembl
Outerchr8:22842508..22845004hg19UCSC Ensembl
Innerchr8:22899491..22900145hg18UCSC Ensembl
Outerchr8:22898453..22900949hg18UCSC Ensembl
Innerchr8:22899491..22900145hg17UCSC 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 StatusS
Merged Variantsnsv8323
Supporting Variants
SamplesNA19221
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)nssv21150
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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