A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832960



Internal ID16110143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:32374455..32541933hg38UCSC Ensembl
Outerchr15:32666656..32834134hg19UCSC Ensembl
Outerchr15:30453948..30621426hg18UCSC Ensembl
Outerchr15:30453948..30621426hg17UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg38167479
hg19167479
hg18167479
hg17167479
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv30n68
Supporting Variantsnssv1451864, nssv1451860, nssv1451863, nssv1451861, nssv1451862
Samples
Known GenesGOLGA8K, GOLGA8O, LOC100996255, ULK4P1, ULK4P2, ULK4P3, WHAMMP1
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)nsv832960
Frequency
Sample Size95
Observed Gain4
Observed Loss1
Observed Complex0
Frequencyn/a


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