A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832905



Internal ID16456774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:19887792..20072224hg38UCSC Ensembl
Outerchr15:20093045..20277477hg19UCSC Ensembl
Outerchr15:18353059..18537491hg18UCSC Ensembl
Outerchr15:18353059..18537491hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38184433
hg19184433
hg18184433
hg17184433
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1451389, nssv1451390, nssv1451393, nssv1451392, nssv1451391
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)nsv832905
Frequency
Sample Size95
Observed Gain2
Observed Loss3
Observed Complex0
Frequencyn/a


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