A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13834



Internal ID15482064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70576169..70729514hg38UCSC Ensembl
Outerchr5:70576067..70729617hg38UCSC Ensembl
Innerchr5:69871996..70025341hg19UCSC Ensembl
Outerchr5:69871894..70025444hg19UCSC Ensembl
Innerchr5:69907752..70061097hg18UCSC Ensembl
Outerchr5:69907650..70061200hg18UCSC Ensembl
Innerchr5:69907752..70061097hg17UCSC Ensembl
Outerchr5:69907650..70061200hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38153551
hg19153551
hg18153551
hg17153551
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA10839
Known GenesSMA4, SMA5
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)nssv13834
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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