A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv834035



Internal ID16457904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10743302..10812682hg38UCSC Ensembl
Outerchr21:10699775..10769155hg19UCSC Ensembl
Outerchr21:9721646..9791026hg18UCSC Ensembl
Outerchr21:9721646..9791026hg17UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg3869381
hg1969381
hg1869381
hg1769381
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1455368, nssv1455374, nssv1455383, nssv1455363, nssv1455382, nssv1455385, nssv1455371, nssv1455380, nssv1455358, nssv1455373, nssv1455362, nssv1455377, nssv1455370, nssv1455378, nssv1455386, nssv1455369, nssv1455354, nssv1455384, nssv1455379, nssv1455376, nssv1455353, nssv1455367, nssv1455372, nssv1455361, nssv1455360, nssv1455366, nssv1455381, nssv1455359, nssv1455356, nssv1455355, nssv1455365, nssv1455357, nssv1455364, nssv1455375
Samples
Known Genes
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)nsv834035
Frequency
Sample Size95
Observed Gain1
Observed Loss33
Observed Complex0
Frequencyn/a


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