A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831644



Internal ID16108827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:83919395..84089480hg38UCSC Ensembl
Outerchr9:86534310..86704395hg19UCSC Ensembl
Outerchr9:85724130..85894215hg18UCSC Ensembl
Outerchr9:83763864..83933949hg17UCSC Ensembl
Cytoband9q21.32
Allele length
AssemblyAllele length
hg38170086
hg19170086
hg18170086
hg17170086
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1447865
Samples
Known GenesC9orf64, HNRNPK, KIF27, MIR7-1, RMI1
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)nsv831644
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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