A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833590



Internal ID16110773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:11757330..11924540hg38UCSC Ensembl
Outerchr18:11757329..11924539hg19UCSC Ensembl
Outerchr18:11747329..11914539hg18UCSC Ensembl
Outerchr18:11747329..11914539hg17UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38167211
hg19167211
hg18167211
hg17167211
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1453897
Samples
Known GenesCHMP1B, GNAL, MPPE1
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)nsv833590
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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