A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832330



Internal ID16109513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:10925079..11054358hg38UCSC Ensembl
Outerchr12:11077678..11206957hg19UCSC Ensembl
Outerchr12:10968945..11098224hg18UCSC Ensembl
Outerchr12:10968945..11098224hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38129280
hg19129280
hg18129280
hg17129280
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1449680, nssv1449679, nssv1449681
Samples
Known GenesPRH1-PRR4, PRH2, TAS2R14, TAS2R19, TAS2R20, TAS2R31, TAS2R50
MethodBAC aCGH
AnalysisExperimental SDs (SDautosome) were calculated for each experiment on the basis of the log2 ratios of the 24,392 reliable clones minus the clones removed because of low signal-to-noise ratio (SNR) or high SD of replicate clone measures (SDclone). Thresholds for determining CNV clones were set at a multiple of the SDautosome value. For each experiment, clones were annotated as uninformative if they were filtered via SNR or SDclone, as a CNV loss if the log2 ratio was less than the negative threshold, as unchanged if the log2 ratio was between the negative and positive thresholds, and as a CNV gain if the log2 ratio was above the positive threshold.
PlatformGPL2616
Comments
ReferenceWong_et_al_2007
Pubmed ID17160897
Accession Number(s)nsv832330
Frequency
Sample Size95
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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