A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10059



Internal ID15845022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:82801791..82813021hg38UCSC Ensembl
Outerchr2:83028915..83040145hg19UCSC Ensembl
Outerchr2:82882426..82893656hg18UCSC Ensembl
Outerchr2:82940573..82951803hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3811231
hg1911231
hg1811231
hg1711231
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv26560
SamplesNA18552
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)nsv10059
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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