A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833903



Internal ID16457772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:41952790..42134588hg38UCSC Ensembl
Outerchr2:42179930..42361728hg19UCSC Ensembl
Outerchr2:42033434..42215232hg18UCSC Ensembl
Outerchr2:42091581..42273379hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38181799
hg19181799
hg18181799
hg17181799
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1441891
Samples
Known GenesC2orf91, PKDCC
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)nsv833903
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