A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833827



Internal ID9424678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:38502414..38693907hg38UCSC Ensembl
Outerchr19:38993054..39184547hg19UCSC Ensembl
Outerchr19:43684894..43876387hg18UCSC Ensembl
Outerchr19:43684894..43876387hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38191494
hg19191494
hg18191494
hg17191494
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1454703
Samples
Known GenesACTN4, EIF3K, MAP4K1, RYR1
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)nsv833827
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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