A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10469



Internal ID15845432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:28580197..28583993hg38UCSC Ensembl
Outerchr4:28581819..28585615hg19UCSC Ensembl
Outerchr4:28190917..28194713hg18UCSC Ensembl
Outerchr4:28258088..28261884hg17UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg383797
hg193797
hg183797
hg173797
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv12987, nssv12331
SamplesNA19132, NA19240
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)nsv10469
Frequency
Sample Size31
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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