A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10516



Internal ID15845479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:68506453..68687707hg38UCSC Ensembl
Outerchr4:69372171..69553425hg19UCSC Ensembl
Outerchr4:69054766..69236020hg18UCSC Ensembl
Outerchr4:69200937..69382191hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38181255
hg19181255
hg18181255
hg17181255
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv12378, nssv13304, nssv11471, nssv13244, nssv14250, nssv12453, nssv12304, nssv13238, nssv12689, nssv11585, nssv12408, nssv11822, nssv13257, nssv13071, nssv12208, nssv29047, nssv13453, nssv13208, nssv14220, nssv12369, nssv12399, nssv12483, nssv12541, nssv12719, nssv12459, nssv12244, nssv11947, nssv12140, nssv29228, nssv13332, nssv13513, nssv11706, nssv12274, nssv11796, nssv11792, nssv12080, nssv11852, nssv13227, nssv11736, nssv12238, nssv13274, nssv13483, nssv12468, nssv13041, nssv11917, nssv12571
SamplesNA18502, NA11830, NA07029, NA18504, NA12155, NA12802, NA18860, NA07048, NA10839, NA10847, NA10863, NA12872, NA19221, NA18853, NA19132, NA18517, NA18564, NA19240, NA19144, NA12740, NA19173
Known GenesUGT2B15, UGT2B17
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)nsv10516
Frequency
Sample Size31
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer