A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv830068



Internal ID16453937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:131659621..131879342hg38UCSC Ensembl
Outerchr4:132580776..132800497hg19UCSC Ensembl
Outerchr4:132800226..133019947hg18UCSC Ensembl
Outerchr4:132938381..133158102hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38219722
hg19219722
hg18219722
hg17219722
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1443947
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)nsv830068
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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