A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv829957



Internal ID16453826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:66424100..66621109hg38UCSC Ensembl
Outerchr4:67289818..67486827hg19UCSC Ensembl
Outerchr4:66972413..67169422hg18UCSC Ensembl
Outerchr4:67118584..67315593hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38197010
hg19197010
hg18197010
hg17197010
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1443690, nssv1443689
Samples
Known GenesMIR548AJ2
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)nsv829957
Frequency
Sample Size95
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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