A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18248



Internal ID15483669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:22689767..22695471hg38UCSC Ensembl
Outerchr8:22688703..22696273hg38UCSC Ensembl
Innerchr8:22547280..22552984hg19UCSC Ensembl
Outerchr8:22546216..22553786hg19UCSC Ensembl
Innerchr8:22603225..22608929hg18UCSC Ensembl
Outerchr8:22602161..22609731hg18UCSC Ensembl
Innerchr8:22603225..22608929hg17UCSC Ensembl
Outerchr8:22602161..22609731hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg387571
hg197571
hg187571
hg177571
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8322
Supporting Variants
SamplesNA12155
Known GenesEGR3
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)nssv18248
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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