A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1443283



Internal ID16093887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:184404072..184622115hg38UCSC Ensembl
Outerchr3:184121860..184339903hg19UCSC Ensembl
Outerchr3:185604554..185822597hg18UCSC Ensembl
Outerchr3:185604562..185822605hg17UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38218044
hg19218044
hg18218044
hg17218044
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv829814
Supporting Variants
Samples
Known GenesEPHB3
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)nssv1443283
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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