A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv834109



Internal ID16111292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44449469..44510164hg38UCSC Ensembl
Outerchr21:45869352..45930047hg19UCSC Ensembl
Outerchr21:44693780..44754475hg18UCSC Ensembl
Outerchr21:44693780..44754475hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3860696
hg1960696
hg1860696
hg1760696
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1455631, nssv1455629, nssv1455628, nssv1455627, nssv1455633, nssv1455632, nssv1455630, nssv1455626
Samples
Known GenesLRRC3, LRRC3-AS1, TSPEAR, TSPEAR-AS1
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)nsv834109
Frequency
Sample Size95
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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