A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9380



Internal ID15847292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:13234097..13240782hg38UCSC Ensembl
Outerchr2:13374222..13380907hg19UCSC Ensembl
Outerchr2:13291673..13298358hg18UCSC Ensembl
Outerchr2:13324820..13331505hg17UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg386686
hg196686
hg186686
hg176686
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28639
SamplesNA19221
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)nsv9380
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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