A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8334



Internal ID15846246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:40324640..40332592hg38UCSC Ensembl
Outerchr8:40182159..40190111hg19UCSC Ensembl
Outerchr8:40301316..40309268hg18UCSC Ensembl
Outerchr8:40301316..40309268hg17UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg387953
hg197953
hg187953
hg177953
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16295, nssv18059
SamplesNA10847, NA19173
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)nsv8334
Frequency
Sample Size31
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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