A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833613



Internal ID16110796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:30866488..31043633hg38UCSC Ensembl
Outerchr18:28446454..28623599hg19UCSC Ensembl
Outerchr18:26700452..26877597hg18UCSC Ensembl
Outerchr18:26700452..26877597hg17UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38177146
hg19177146
hg18177146
hg17177146
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1453943, nssv1453944
Samples
Known GenesDSC3
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)nsv833613
Frequency
Sample Size95
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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