A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28841



Internal ID15834275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:80563887..80564488hg38UCSC Ensembl
Outerchr2:80563185..80565501hg38UCSC Ensembl
Innerchr2:80791012..80791613hg19UCSC Ensembl
Outerchr2:80790310..80792626hg19UCSC Ensembl
Innerchr2:80644523..80645124hg18UCSC Ensembl
Outerchr2:80643821..80646137hg18UCSC Ensembl
Innerchr2:80702670..80703271hg17UCSC 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 StatusS
Merged Variantsnsv10055
Supporting Variants
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)nssv28841
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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