A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv834557



Internal ID16111740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:2117631..2311104hg38UCSC Ensembl
Outerchr1:2049070..2242543hg19UCSC Ensembl
Outerchr1:2038930..2232403hg18UCSC Ensembl
Outerchr1:2081232..2274705hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38193474
hg19193474
hg18193474
hg17193474
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1444851, nssv1444295, nssv1445295, nssv1444517, nssv1444406, nssv1444184, nssv1444739, nssv1445184, nssv1445073, nssv1444628, nssv1444962
Samples
Known GenesC1orf86, PRKCZ, SKI
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)nsv834557
Frequency
Sample Size95
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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