A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8927



Internal ID15500153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:20876792..20878015hg38UCSC Ensembl
Outerchr12:21029726..21030949hg19UCSC Ensembl
Outerchr12:20920993..20922216hg18UCSC Ensembl
Outerchr12:20920993..20922216hg17UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg381224
hg191224
hg181224
hg171224
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv20336
SamplesNA19007
Known GenesSLCO1B3
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)nsv8927
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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