A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833349



Internal ID16110532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:4853631..4991300hg38UCSC Ensembl
Outerchr17:4756926..4894595hg19UCSC Ensembl
Outerchr17:4703111..4835319hg18UCSC Ensembl
Outerchr17:4703111..4835319hg17UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38137670
hg19137670
hg18132209
hg17132209
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1453088, nssv1453087, nssv1453089
Samples
Known GenesC17orf107, CAMTA2, CHRNE, ENO3, GP1BA, INCA1, MINK1, MIR6864, MIR6865, PFN1, RNF167, SLC25A11, SPAG7
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)nsv833349
Frequency
Sample Size95
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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