A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8926



Internal ID15500152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:18391169..18411018hg38UCSC Ensembl
Outerchr12:18544103..18563952hg19UCSC Ensembl
Outerchr12:18435370..18455219hg18UCSC Ensembl
Outerchr12:18435370..18455219hg17UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3819850
hg1919850
hg1819850
hg1719850
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv19072
SamplesNA18942
Known GenesPIK3C2G
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)nsv8926
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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