A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1447872



Internal ID16098476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:91930172..92105260hg38UCSC Ensembl
Outerchr9:94692454..94867542hg19UCSC Ensembl
Outerchr9:93732275..93907363hg18UCSC Ensembl
Outerchr9:91772009..91947097hg17UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg38175089
hg19175089
hg18175089
hg17175089
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv831653
Supporting Variants
Samples
Known GenesROR2, SPTLC1
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)nssv1447872
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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