A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833307



Internal ID16110490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:83298157..83361063hg38UCSC Ensembl
Outerchr16:83331762..83394668hg19UCSC Ensembl
Outerchr16:81889263..81952169hg18UCSC Ensembl
Outerchr16:81889263..81952169hg17UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3862907
hg1962907
hg1862907
hg1762907
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1452904, nssv1452910, nssv1452903, nssv1452899, nssv1452906, nssv1452905, nssv1452909, nssv1452916, nssv1452902, nssv1452907, nssv1452914, nssv1452908, nssv1452917, nssv1452901, nssv1452896, nssv1452897, nssv1452912, nssv1452898, nssv1452915, nssv1452918, nssv1452900, nssv1452913, nssv1452911
Samples
Known GenesCDH13
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)nsv833307
Frequency
Sample Size95
Observed Gain2
Observed Loss21
Observed Complex0
Frequencyn/a


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