A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832038



Internal ID16109221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:133143596..133320747hg38UCSC Ensembl
Outerchr10:134957100..135134251hg19UCSC Ensembl
Outerchr10:134807090..134984241hg18UCSC Ensembl
Outerchr10:134845981..135023132hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38177152
hg19177152
hg18177152
hg17177152
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1448912, nssv1448907, nssv1448909, nssv1448911, nssv1448910, nssv1448908
Samples
Known GenesADAM8, KNDC1, MIR202, MIR202HG, TUBGCP2, UTF1, VENTX, ZNF511
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)nsv832038
Frequency
Sample Size95
Observed Gain1
Observed Loss5
Observed Complex0
Frequencyn/a


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