A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832683



Internal ID16109866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:93555549..93718673hg38UCSC Ensembl
Outerchr13:94207802..94370926hg19UCSC Ensembl
Outerchr13:93005803..93168927hg18UCSC Ensembl
Outerchr13:93005803..93168927hg17UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38163125
hg19163125
hg18163125
hg17163125
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1450428, nssv1450427, nssv1450430
Samples
Known GenesGPC6
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)nsv832683
Frequency
Sample Size95
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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