A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833562



Internal ID16110745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:80114523..80301339hg38UCSC Ensembl
Outerchr17:78088322..78275139hg19UCSC Ensembl
Outerchr17:75702917..75889734hg18UCSC Ensembl
Outerchr17:75702917..75889734hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38186817
hg19186818
hg18186818
hg17186818
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1453767
Samples
Known GenesCARD14, EIF4A3, GAA, RNF213, SGSH, SLC26A11
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)nsv833562
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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