A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13025



Internal ID15482460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70245345..70245425hg38UCSC Ensembl
Outerchr5:70243167..70247089hg38UCSC Ensembl
Innerchr5:69541172..69541252hg19UCSC Ensembl
Outerchr5:69538994..69542916hg19UCSC Ensembl
Innerchr5:69576928..69577008hg18UCSC Ensembl
Outerchr5:69574750..69578672hg18UCSC Ensembl
Innerchr5:69576928..69577008hg17UCSC Ensembl
Outerchr5:69574750..69578672hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg383923
hg193923
hg183923
hg173923
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA10847
Known GenesGUSBP9, 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)nssv13025
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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