A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833742



Internal ID16110925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:9872203..10021301hg38UCSC Ensembl
Outerchr19:9982879..10131977hg19UCSC Ensembl
Outerchr19:9843879..9992977hg18UCSC Ensembl
Outerchr19:9843879..9992977hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38149099
hg19149099
hg18149099
hg17149099
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1454527, nssv1454526, nssv1454524, nssv1454525
Samples
Known GenesCOL5A3, OLFM2, RDH8
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)nsv833742
Frequency
Sample Size95
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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