A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1442973



Internal ID16093577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:108181476..108383486hg38UCSC Ensembl
Outerchr3:107900323..108102333hg19UCSC Ensembl
Outerchr3:109383013..109585023hg18UCSC Ensembl
Outerchr3:109383013..109585023hg17UCSC Ensembl
Cytoband3q13.12
Allele length
AssemblyAllele length
hg38202011
hg19202011
hg18202011
hg17202011
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv829656
Supporting Variants
Samples
Known GenesHHLA2, IFT57, MYH15
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)nssv1442973
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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