A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv829959



Internal ID16453828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:58874658..59037413hg38UCSC Ensembl
Outerchr1:59340330..59503085hg19UCSC Ensembl
Outerchr1:59112918..59275673hg18UCSC Ensembl
Outerchr1:59052351..59215106hg17UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38162756
hg19162756
hg18162756
hg17162756
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1446773, nssv1446795, nssv1446706, nssv1446751, nssv1446762, nssv1446740, nssv1446728, nssv1446784, nssv1446717, nssv1446695
Samples
Known GenesLINC01135
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)nsv829959
Frequency
Sample Size95
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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