A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv834619



Internal ID16111802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:14354326..14487969hg38UCSC Ensembl
Outerchr3:14395826..14529477hg19UCSC Ensembl
Outerchr3:14370830..14504481hg18UCSC Ensembl
Outerchr3:14370830..14504481hg17UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38133644
hg19133652
hg18133652
hg17133652
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1442686, nssv1442687
Samples
Known GenesSLC6A6
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)nsv834619
Frequency
Sample Size95
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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