A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833166



Internal ID16110349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:21024484..21220636hg38UCSC Ensembl
Outerchr16:21035806..21231957hg19UCSC Ensembl
Outerchr16:20943307..21139458hg18UCSC Ensembl
Outerchr16:20943307..21139458hg17UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38196153
hg19196152
hg18196152
hg17196152
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1452394, nssv1452390, nssv1452398, nssv1452389, nssv1452388, nssv1452416, nssv1452413, nssv1452414, nssv1452402, nssv1452396, nssv1452404, nssv1452410, nssv1452392, nssv1452401, nssv1452409, nssv1452415, nssv1452399, nssv1452397, nssv1452386, nssv1452412, nssv1452407, nssv1452406, nssv1452408, nssv1452403, nssv1452393, nssv1452405, nssv1452387, nssv1452395, nssv1452391, nssv1452400, nssv1452411
Samples
Known GenesDNAH3, TMEM159, ZP2
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)nsv833166
Frequency
Sample Size95
Observed Gain4
Observed Loss27
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer