A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832705



Internal ID16456574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:101978940..102152950hg38UCSC Ensembl
Outerchr13:102631290..102805300hg19UCSC Ensembl
Outerchr13:101429291..101603301hg18UCSC Ensembl
Outerchr13:101429291..101603301hg17UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg38174011
hg19174011
hg18174011
hg17174011
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1450459, nssv1450458, nssv1450457
Samples
Known GenesFGF14, MIR4705
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)nsv832705
Frequency
Sample Size95
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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