A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833202



Internal ID16457071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:33082495..33497065hg38UCSC Ensembl
Outerchr16:33093816..33299532hg19UCSC Ensembl
Outerchr16:33001317..33207033hg18UCSC Ensembl
Outerchr16:33001317..33207033hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38414571
hg19205717
hg18205717
hg17205717
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1452599, nssv1452593, nssv1452600, nssv1452590, nssv1452592, nssv1452591, nssv1452594, nssv1452597, nssv1452598, nssv1452589, nssv1452595, nssv1452596
Samples
Known GenesLOC390705, TP53TG3, TP53TG3B, TP53TG3C
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)nsv833202
Frequency
Sample Size95
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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