A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv829930



Internal ID16453799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:49550829..49629575hg38UCSC Ensembl
Outerchr4:49552846..49631592hg19UCSC Ensembl
Outerchr4:49247603..49326349hg18UCSC Ensembl
Outerchr4:49393774..49472520hg17UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3878747
hg1978747
hg1878747
hg1778747
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1443626, nssv1443625
Samples
Known Genes
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)nsv829930
Frequency
Sample Size95
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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