A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv829856



Internal ID16453725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:9368582..9477503hg38UCSC Ensembl
Outerchr4:9370308..9479149hg19UCSC Ensembl
Outerchr4:8979406..9088247hg18UCSC Ensembl
Outerchr4:9046577..9155418hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38108922
hg19108842
hg18108842
hg17108842
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1443417, nssv1443416, nssv1443415, nssv1443421, nssv1443414, nssv1443411, nssv1443419, nssv1443412, nssv1443420, nssv1443410, nssv1443422, nssv1443413
Samples
Known GenesDEFB131, USP17L6P
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)nsv829856
Frequency
Sample Size95
Observed Gain4
Observed Loss8
Observed Complex0
Frequencyn/a


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