A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13276



Internal ID15488803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69670474..69884081hg38UCSC Ensembl
Outerchr5:69670045..69884990hg38UCSC Ensembl
Innerchr5:68966301..69179908hg19UCSC Ensembl
Outerchr5:68965872..69180817hg19UCSC Ensembl
Innerchr5:69002057..69215664hg18UCSC Ensembl
Outerchr5:69001628..69216573hg18UCSC Ensembl
Innerchr5:69002057..69215664hg17UCSC Ensembl
Outerchr5:69001628..69216573hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38214946
hg19214946
hg18214946
hg17214946
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18552
Known GenesGUSBP3, GUSBP9, SMA4
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)nssv13276
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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