A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv829933



Internal ID9420784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:52021750..52222481hg38UCSC Ensembl
Outerchr4:52887916..53088647hg19UCSC Ensembl
Outerchr4:52582673..52783404hg18UCSC Ensembl
Outerchr4:52728844..52929575hg17UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38200732
hg19200732
hg18200732
hg17200732
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1443635
Samples
Known GenesSGCB, SPATA18
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)nsv829933
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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