A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833449



Internal ID16110632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:42274854..42421081hg38UCSC Ensembl
Outerchr17:40426872..40573099hg19UCSC Ensembl
Outerchr17:37680398..37826625hg18UCSC Ensembl
Outerchr17:37680398..37826625hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38146228
hg19146228
hg18146228
hg17146228
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1453405, nssv1453406
Samples
Known GenesPTRF, STAT3, STAT5A, STAT5B
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)nsv833449
Frequency
Sample Size95
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer