A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833519



Internal ID16457388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:65768850..65933059hg38UCSC Ensembl
Outerchr17:63764968..63929177hg19UCSC Ensembl
Outerchr17:61195430..61359639hg18UCSC Ensembl
Outerchr17:61195430..61359639hg17UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg38164210
hg19164210
hg18164210
hg17164210
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1453656, nssv1453657, nssv1453658, nssv1453659, nssv1453660
Samples
Known GenesCEP112
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)nsv833519
Frequency
Sample Size95
Observed Gain2
Observed Loss3
Observed Complex0
Frequencyn/a


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