A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831146



Internal ID16108329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:135497997..135657093hg38UCSC Ensembl
Outerchr7:135182745..135341841hg19UCSC Ensembl
Outerchr7:134833285..134992381hg18UCSC Ensembl
Outerchr7:134640000..134799096hg17UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38159097
hg19159097
hg18159097
hg17159097
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1446515
Samples
Known GenesCNOT4, NUP205
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)nsv831146
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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