A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv830110



Internal ID16107293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:147510973..147673968hg38UCSC Ensembl
Outerchr4:148432125..148595119hg19UCSC Ensembl
Outerchr4:148651575..148814569hg18UCSC Ensembl
Outerchr4:148789730..148952724hg17UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg38162996
hg19162995
hg18162995
hg17162995
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1444023
Samples
Known GenesEDNRA, PRMT10, TMEM184C
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)nsv830110
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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