A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831568



Internal ID16108751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:42122777..42300028hg38UCSC Ensembl
Outerchr9:43514361..43691612hg19UCSC Ensembl
Outerchr9:43454357..43631608hg18UCSC Ensembl
Outerchr9:42921526..43098777hg17UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg38177252
hg19177252
hg18177252
hg17177252
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1447692, nssv1447691
Samples
Known GenesCNTNAP3B, SPATA31A6
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)nsv831568
Frequency
Sample Size95
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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