A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv830692



Internal ID16107875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:97035936..97159597hg38UCSC Ensembl
Outerchr1:97501492..97625153hg19UCSC Ensembl
Outerchr1:97274080..97397741hg18UCSC Ensembl
Outerchr1:97213513..97337174hg17UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38123662
hg19123662
hg18123662
hg17123662
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1447984, nssv1447973
Samples
Known GenesDPYD, DPYD-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)nsv830692
Frequency
Sample Size95
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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