A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831698



Internal ID16455567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:115521980..115684177hg38UCSC Ensembl
Outerchr9:118284259..118446456hg19UCSC Ensembl
Outerchr9:117324080..117486277hg18UCSC Ensembl
Outerchr9:115363813..115526010hg17UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg38162198
hg19162198
hg18162198
hg17162198
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1447966, nssv1447967
Samples
Known Genes
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)nsv831698
Frequency
Sample Size95
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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