A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1450254



Internal ID16100858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:51602847..51788389hg38UCSC Ensembl
Outerchr13:52176983..52362525hg19UCSC Ensembl
Outerchr13:51074984..51260526hg18UCSC Ensembl
Outerchr13:51074984..51260526hg17UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38185543
hg19185543
hg18185543
hg17185543
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv832612
Supporting Variants
Samples
Known GenesDHRS12, WDFY2
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)nssv1450254
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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