A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832039



Internal ID16109222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:133161709..133267664hg38UCSC Ensembl
Outerchr10:134975213..135081168hg19UCSC Ensembl
Outerchr10:134825203..134931158hg18UCSC Ensembl
Outerchr10:134864094..134970049hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38105956
hg19105956
hg18105956
hg17105956
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1448913, nssv1448916, nssv1448919, nssv1448914, nssv1448918, nssv1448921, nssv1448920, nssv1448922, nssv1448915
Samples
Known GenesADAM8, KNDC1, MIR202, MIR202HG, UTF1, VENTX
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)nsv832039
Frequency
Sample Size95
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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