A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv829914



Internal ID16107097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:41072681..41242403hg38UCSC Ensembl
Outerchr4:41074698..41244420hg19UCSC Ensembl
Outerchr4:40769455..40939177hg18UCSC Ensembl
Outerchr4:40915626..41085348hg17UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg38169723
hg19169723
hg18169723
hg17169723
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1443575, nssv1443572, nssv1443574
Samples
Known GenesAPBB2, UCHL1-AS1
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)nsv829914
Frequency
Sample Size95
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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