A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv834775



Internal ID16111958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:98451215..98648708hg38UCSC Ensembl
Outerchr3:98170059..98367552hg19UCSC Ensembl
Outerchr3:99652749..99850242hg18UCSC Ensembl
Outerchr3:99652749..99850242hg17UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg38197494
hg19197494
hg18197494
hg17197494
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1442953, nssv1442952
Samples
Known GenesCLDND1, CPOX, GPR15, OR5K1, OR5K2
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)nsv834775
Frequency
Sample Size95
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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