A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832979



Internal ID16110162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:39749727..39926206hg38UCSC Ensembl
Outerchr15:40041928..40218407hg19UCSC Ensembl
Outerchr15:37829220..38005699hg18UCSC Ensembl
Outerchr15:37829220..38005699hg17UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38176480
hg19176480
hg18176480
hg17176480
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1451919, nssv1451920, nssv1451917, nssv1451918
Samples
Known GenesFSIP1, GPR176
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)nsv832979
Frequency
Sample Size95
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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