A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv830611



Internal ID16107794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:25039146..25198884hg38UCSC Ensembl
Outerchr6:25039374..25199112hg19UCSC Ensembl
Outerchr6:25147353..25307091hg18UCSC Ensembl
Outerchr6:25147353..25307091hg17UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg38159739
hg19159739
hg18159739
hg17159739
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1445293, nssv1445291, nssv1445292
Samples
Known GenesCMAHP, FAM65B
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)nsv830611
Frequency
Sample Size95
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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