A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10412



Internal ID15845375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:655502..657389hg38UCSC Ensembl
Outerchr4:649291..651178hg19UCSC Ensembl
Outerchr4:639291..641178hg18UCSC Ensembl
Outerchr4:639291..641178hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381888
hg191888
hg181888
hg171888
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv11462, nssv12734, nssv11973, nssv12069
SamplesNA07029, NA07048, NA18517, NA12740
Known GenesPDE6B
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)nsv10412
Frequency
Sample Size31
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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