A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13486



Internal ID15488777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70517996..70522274hg38UCSC Ensembl
Outerchr5:70517947..70522945hg38UCSC Ensembl
Innerchr5:69813823..69818101hg19UCSC Ensembl
Outerchr5:69813774..69818772hg19UCSC Ensembl
Innerchr5:69849579..69853857hg18UCSC Ensembl
Outerchr5:69849530..69854528hg18UCSC Ensembl
Innerchr5:69849579..69853857hg17UCSC Ensembl
Outerchr5:69849530..69854528hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg384999
hg194999
hg184999
hg174999
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18552
Known GenesGUSBP9, SMA4, 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)nssv13486
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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