A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15589



Internal ID15490277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:5939265..5942400hg38UCSC Ensembl
Outerchr8:5938699..5942981hg38UCSC Ensembl
Innerchr8:5796787..5799922hg19UCSC Ensembl
Outerchr8:5796221..5800503hg19UCSC Ensembl
Innerchr8:5784195..5787330hg18UCSC Ensembl
Outerchr8:5783629..5787911hg18UCSC Ensembl
Innerchr8:5784195..5787330hg17UCSC Ensembl
Outerchr8:5783629..5787911hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg384283
hg194283
hg184283
hg174283
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8268
Supporting Variants
SamplesNA18572
Known Genes
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)nssv15589
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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