A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1454761



Internal ID16105365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:47134590..47307834hg38UCSC Ensembl
Outerchr19:47637847..47811091hg19UCSC Ensembl
Outerchr19:52329687..52502931hg18UCSC Ensembl
Outerchr19:52329687..52502931hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38173245
hg19173245
hg18173245
hg17173245
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv833852
Supporting Variants
Samples
Known GenesBBC3, CCDC9, MIR3190, MIR3191, PRR24, SAE1
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)nssv1454761
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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