A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10055



Internal ID15845018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:80563185..80565501hg38UCSC Ensembl
Outerchr2:80790310..80792626hg19UCSC Ensembl
Outerchr2:80643821..80646137hg18UCSC Ensembl
Outerchr2:80701968..80704284hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg382317
hg192317
hg182317
hg172317
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28841
SamplesNA18517
Known GenesCTNNA2
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nsv10055
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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