A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8319



Internal ID15846231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:21918651..21920800hg38UCSC Ensembl
Outerchr8:21776162..21778311hg19UCSC Ensembl
Outerchr8:21832108..21834257hg18UCSC Ensembl
Outerchr8:21832108..21834257hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg382150
hg192150
hg182150
hg172150
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17014, nssv20264, nssv18218, nssv17949, nssv17538, nssv19513, nssv19551
SamplesNA18504, NA12155, NA18860, NA10839, NA18517, NA18564, NA12740
Known GenesXPO7
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)nsv8319
Frequency
Sample Size31
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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