A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833912



Internal ID16457781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:7359734..7547882hg38UCSC Ensembl
Outerchr20:7340381..7528529hg19UCSC Ensembl
Outerchr20:7288381..7476529hg18UCSC Ensembl
Outerchr20:7288381..7476529hg17UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38188149
hg19188149
hg18188149
hg17188149
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1454949, nssv1454936, nssv1454927, nssv1454929, nssv1454935, nssv1454945, nssv1454938, nssv1454932, nssv1454931, nssv1454943, nssv1454940, nssv1454942, nssv1454939, nssv1454944, nssv1454941, nssv1454933, nssv1454946, nssv1454930, nssv1454934, nssv1454948, nssv1454950, nssv1454947, nssv1454928, nssv1454937
Samples
Known GenesMIR8062
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)nsv833912
Frequency
Sample Size95
Observed Gain24
Observed Loss0
Observed Complex0
Frequencyn/a


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