A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13326



Internal ID15482762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70143118..70175491hg38UCSC Ensembl
Outerchr5:70142830..70175542hg38UCSC Ensembl
Innerchr5:69438945..69471318hg19UCSC Ensembl
Outerchr5:69438657..69471369hg19UCSC Ensembl
Innerchr5:69474701..69507074hg18UCSC Ensembl
Outerchr5:69474413..69507125hg18UCSC Ensembl
Innerchr5:69474701..69507074hg17UCSC Ensembl
Outerchr5:69474413..69507125hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3832713
hg1932713
hg1832713
hg1732713
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA10863
Known GenesSMA4
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)nssv13326
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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