A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10013



Internal ID15844976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:73611054..73614048hg38UCSC Ensembl
Outerchr2:73838181..73841175hg19UCSC Ensembl
Outerchr2:73691689..73694683hg18UCSC Ensembl
Outerchr2:73749836..73752830hg17UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg382995
hg192995
hg182995
hg172995
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv26570
SamplesNA19007
Known Genes
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)nsv10013
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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