A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1443104



Internal ID16440394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:144732636..144899382hg38UCSC Ensembl
Outerchr3:144451478..144618224hg19UCSC Ensembl
Outerchr3:145934168..146100914hg18UCSC Ensembl
Outerchr3:145934176..146100922hg17UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38166747
hg19166747
hg18166747
hg17166747
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv829746
Supporting Variants
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)nssv1443104
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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