A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8915



Internal ID15846827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:10993995..10995990hg38UCSC Ensembl
Outerchr12:11146594..11148589hg19UCSC Ensembl
Outerchr12:11037861..11039856hg18UCSC Ensembl
Outerchr12:11037861..11039856hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg381996
hg191996
hg181996
hg171996
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv19442, nssv23660
SamplesNA07029, NA18517
Known GenesPRH1-PRR4, TAS2R20
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)nsv8915
Frequency
Sample Size31
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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