A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832649



Internal ID16109832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:75850736..76083755hg38UCSC Ensembl
Outerchr13:76424872..76657891hg19UCSC Ensembl
Outerchr13:75322873..75555892hg18UCSC Ensembl
Outerchr13:75322873..75555892hg17UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg38233020
hg19233020
hg18233020
hg17233020
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1450359
Samples
Known GenesC13orf45, LMO7
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)nsv832649
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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