A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13205



Internal ID15482493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70586586..70719056hg38UCSC Ensembl
Outerchr5:70585150..70720499hg38UCSC Ensembl
Innerchr5:69882413..70014883hg19UCSC Ensembl
Outerchr5:69880977..70016326hg19UCSC Ensembl
Innerchr5:69918169..70050639hg18UCSC Ensembl
Outerchr5:69916733..70052082hg18UCSC Ensembl
Innerchr5:69918169..70050639hg17UCSC Ensembl
Outerchr5:69916733..70052082hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38135350
hg19135350
hg18135350
hg17135350
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA10847
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)nssv13205
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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