A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831731



Internal ID16108914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:129514951..129634646hg38UCSC Ensembl
Outerchr9:132277230..132396925hg19UCSC Ensembl
Outerchr9:131317051..131436746hg18UCSC Ensembl
Outerchr9:129356784..129476479hg17UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38119696
hg19119696
hg18119696
hg17119696
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1448034, nssv1448033
Samples
Known GenesASB6, C9orf50, NTMT1
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)nsv831731
Frequency
Sample Size95
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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