A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8877



Internal ID15500103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:130446339..130454847hg38UCSC Ensembl
Outerchr11:130316234..130324742hg19UCSC Ensembl
Outerchr11:129821444..129829952hg18UCSC Ensembl
Outerchr11:129821444..129829952hg17UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg388509
hg198509
hg188509
hg178509
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv21188
SamplesNA12155
Known GenesADAMTS15
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)nsv8877
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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