A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv830887



Internal ID9421738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:2507249..2621396hg38UCSC Ensembl
Outerchr7:2546883..2661030hg19UCSC Ensembl
Outerchr7:2513409..2627556hg18UCSC Ensembl
Outerchr7:2320124..2434271hg17UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg38114148
hg19114148
hg18114148
hg17114148
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1445888
Samples
Known GenesBRAT1, IQCE, LFNG, MIR4648
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)nsv830887
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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