A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832002



Internal ID16109185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:117037559..117246329hg38UCSC Ensembl
Outerchr10:118797070..119005840hg19UCSC Ensembl
Outerchr10:118787060..118995830hg18UCSC Ensembl
Outerchr10:118787060..118995830hg17UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg38208771
hg19208771
hg18208771
hg17208771
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1448768, nssv1448767
Samples
Known GenesKCNK18, KIAA1598, MIR3663, SLC18A2, VAX1
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)nsv832002
Frequency
Sample Size95
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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