A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832329



Internal ID16109512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:10524495..10693347hg38UCSC Ensembl
Outerchr12:10677094..10845946hg19UCSC Ensembl
Outerchr12:10568361..10737213hg18UCSC Ensembl
Outerchr12:10568361..10737213hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38168853
hg19168853
hg18168853
hg17168853
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1449678
Samples
Known GenesKLRAP1, MAGOHB, STYK1
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)nsv832329
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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