A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833958



Internal ID16111141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:45326098..45485346hg38UCSC Ensembl
Outerchr2:45553237..45712485hg19UCSC Ensembl
Outerchr2:45406741..45565989hg18UCSC Ensembl
Outerchr2:45464888..45624136hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38159249
hg19159249
hg18159249
hg17159249
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1441899
Samples
Known GenesSRBD1
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)nsv833958
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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