A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833390



Internal ID16110573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:18786912..18976381hg38UCSC Ensembl
Outerchr17:18690225..18879694hg19UCSC Ensembl
Outerchr17:18630950..18820419hg18UCSC Ensembl
Outerchr17:18630950..18820419hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38189470
hg19189470
hg18189470
hg17189470
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1453158
Samples
Known GenesFAM83G, PRPSAP2, SLC5A10, TVP23B
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)nsv833390
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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