A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv834263



Internal ID16111446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:75617574..75780540hg38UCSC Ensembl
Outerchr2:75844700..76007666hg19UCSC Ensembl
Outerchr2:75698208..75861174hg18UCSC Ensembl
Outerchr2:75756355..75919321hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38162967
hg19162967
hg18162967
hg17162967
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1441972
Samples
Known GenesGCFC2, MRPL19
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)nsv834263
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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