A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833516



Internal ID16110699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:64735890..64888752hg38UCSC Ensembl
Outerchr17:62732008..62884870hg19UCSC Ensembl
Outerchr17:60162470..60315332hg18UCSC Ensembl
Outerchr17:60162470..60315332hg17UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg38152863
hg19152863
hg18152863
hg17152863
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv44n68
Supporting Variantsnssv1453634, nssv1453635, nssv1453636, nssv1453639, nssv1453638, nssv1453640, nssv1453637
Samples
Known GenesLOC146880, LRRC37A3, MIR4315-1, MIR4315-2, MIR6080, PLEKHM1P
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)nsv833516
Frequency
Sample Size95
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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