A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1443992



Internal ID16094596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:139494751..139671217hg38UCSC Ensembl
Outerchr4:140415905..140592371hg19UCSC Ensembl
Outerchr4:140635355..140811821hg18UCSC Ensembl
Outerchr4:140773510..140949976hg17UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg38176467
hg19176467
hg18176467
hg17176467
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv830086
Supporting Variants
Samples
Known GenesMGST2, SETD7
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)nssv1443992
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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