A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9343



Internal ID15500569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:6725843..6732116hg38UCSC Ensembl
Outerchr16:6775844..6782117hg19UCSC Ensembl
Outerchr16:6715845..6722118hg18UCSC Ensembl
Outerchr16:6715845..6722118hg17UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg386274
hg196274
hg186274
hg176274
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv24991
SamplesNA18504
Known GenesRBFOX1
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)nsv9343
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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