A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9011



Internal ID15846923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:129467636..129476282hg38UCSC Ensembl
Outerchr12:129952181..129960827hg19UCSC Ensembl
Outerchr12:128518134..128526780hg18UCSC Ensembl
Outerchr12:128477061..128485707hg17UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg388647
hg198647
hg188647
hg178647
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv20995
SamplesNA18980
Known GenesTMEM132D
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)nsv9011
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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