A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832517



Internal ID9423368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:114212961..114392363hg38UCSC Ensembl
Outerchr12:114650766..114830168hg19UCSC Ensembl
Outerchr12:113135149..113314551hg18UCSC Ensembl
Outerchr12:113113486..113292888hg17UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38179403
hg19179403
hg18179403
hg17179403
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1450009
Samples
Known GenesTBX5
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)nsv832517
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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