A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831623



Internal ID16108806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:74643342..74813381hg38UCSC Ensembl
Outerchr9:77258258..77428297hg19UCSC Ensembl
Outerchr9:76448078..76618117hg18UCSC Ensembl
Outerchr9:74487812..74657851hg17UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg38170040
hg19170040
hg18170040
hg17170040
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1447833, nssv1447835, nssv1447834
Samples
Known GenesRORB, TRPM6
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)nsv831623
Frequency
Sample Size95
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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