A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832437



Internal ID16456306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:208125616..208286477hg38UCSC Ensembl
Outerchr1:208298961..208459822hg19UCSC Ensembl
Outerchr1:206365584..206526445hg18UCSC Ensembl
Outerchr1:204687356..204848217hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38160862
hg19160862
hg18160862
hg17160862
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1441646, nssv1441645, nssv1441647
Samples
Known GenesPLXNA2
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)nsv832437
Frequency
Sample Size95
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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