A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv830045



Internal ID16453914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:122070895..122308436hg38UCSC Ensembl
Outerchr4:122992050..123229591hg19UCSC Ensembl
Outerchr4:123211500..123449041hg18UCSC Ensembl
Outerchr4:123349655..123587196hg17UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg38237542
hg19237542
hg18237542
hg17237542
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1443922
Samples
Known GenesKIAA1109
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)nsv830045
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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