A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv834142



Internal ID16111325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:20979844..21170235hg38UCSC Ensembl
Outerchr22:21334133..21524524hg19UCSC Ensembl
Outerchr22:19664133..19854524hg18UCSC Ensembl
Outerchr22:19658687..19849078hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38190392
hg19190392
hg18190392
hg17190392
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1455724, nssv1455723, nssv1455717, nssv1455722, nssv1455726, nssv1455716, nssv1455727, nssv1455720, nssv1455718, nssv1455721, nssv1455719, nssv1455725
Samples
Known GenesAIFM3, BCRP2, FAM230B, LOC400891, LZTR1, P2RX6, P2RX6P, SLC7A4, THAP7, THAP7-AS1, TUBA3FP
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)nsv834142
Frequency
Sample Size95
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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