A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10267



Internal ID15845230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:46381639..46399222hg38UCSC Ensembl
Outerchr3:46423130..46440713hg19UCSC Ensembl
Outerchr3:46398134..46415717hg18UCSC Ensembl
Outerchr3:46398134..46415717hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3817584
hg1917584
hg1817584
hg1717584
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv12570
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)nsv10267
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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