A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831886



Internal ID16455755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:58665582..58840886hg38UCSC Ensembl
Outerchr10:60425342..60600646hg19UCSC Ensembl
Outerchr10:60095348..60270652hg18UCSC Ensembl
Outerchr10:60095348..60270652hg17UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38175305
hg19175305
hg18175305
hg17175305
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1448537, nssv1448538
Samples
Known GenesBICC1, FAM133CP
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)nsv831886
Frequency
Sample Size95
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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