A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9358



Internal ID15500584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:10490195..10546695hg38UCSC Ensembl
Outerchr2:10630321..10686821hg19UCSC Ensembl
Outerchr2:10547772..10604272hg18UCSC Ensembl
Outerchr2:10580919..10637419hg17UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3856501
hg1956501
hg1856501
hg1756501
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27930
SamplesNA18564
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)nsv9358
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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