A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833400



Internal ID16457269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:20594368..20746345hg38UCSC Ensembl
Outerchr17:20497681..20649658hg19UCSC Ensembl
Outerchr17:20438273..20590250hg18UCSC Ensembl
Outerchr17:20438273..20590250hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38151978
hg19151978
hg18151978
hg17151978
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1453218, nssv1453217
Samples
Known GenesLOC100287072
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)nsv833400
Frequency
Sample Size95
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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