A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833486



Internal ID16457355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:53948500..54142050hg38UCSC Ensembl
Outerchr17:52025861..52219411hg19UCSC Ensembl
Outerchr17:49380860..49574410hg18UCSC Ensembl
Outerchr17:49380860..49574410hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38193551
hg19193551
hg18193551
hg17193551
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1453583
Samples
Known GenesMIR548AJ2
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)nsv833486
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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