A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831951



Internal ID16109134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:96957346..97001523hg38UCSC Ensembl
Outerchr10:98717103..98761280hg19UCSC Ensembl
Outerchr10:98707093..98751270hg18UCSC Ensembl
Outerchr10:98707093..98751270hg17UCSC Ensembl
Cytoband10q24.1
Allele length
AssemblyAllele length
hg3844178
hg1944178
hg1844178
hg1744178
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1448665
Samples
Known GenesC10orf12, LCOR, SLIT1
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)nsv831951
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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