A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8755



Internal ID15499981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:722390..724601hg38UCSC Ensembl
Outerchr11:722390..724601hg19UCSC Ensembl
Outerchr11:712390..714601hg18UCSC Ensembl
Outerchr11:712390..714601hg17UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg382212
hg192212
hg182212
hg172212
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv21643
SamplesNA18504
Known GenesEPS8L2
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)nsv8755
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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