A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv829899



Internal ID16453768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:34100266..34303886hg38UCSC Ensembl
Outerchr4:34101888..34305508hg19UCSC Ensembl
Outerchr4:33778283..33981903hg18UCSC Ensembl
Outerchr4:33924454..34128074hg17UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg38203621
hg19203621
hg18203621
hg17203621
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1443539, nssv1443541, nssv1443542, nssv1443543
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)nsv829899
Frequency
Sample Size95
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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