A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9468



Internal ID15500694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:86494549..86511742hg38UCSC Ensembl
Outerchr16:86528155..86545348hg19UCSC Ensembl
Outerchr16:85085656..85102849hg18UCSC Ensembl
Outerchr16:85085656..85102849hg17UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg3817194
hg1917194
hg1817194
hg1717194
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28127, nssv24069, nssv23229, nssv24019, nssv22682, nssv26697
SamplesNA18517, NA07029, NA12740, NA07048, NA18537, NA19221
Known GenesFENDRR, FOXF1
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)nsv9468
Frequency
Sample Size31
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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