A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13246



Internal ID15488805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69641880..69646155hg38UCSC Ensembl
Outerchr5:69641831..69646829hg38UCSC Ensembl
Innerchr5:68937707..68941982hg19UCSC Ensembl
Outerchr5:68937658..68942656hg19UCSC Ensembl
Innerchr5:68973463..68977738hg18UCSC Ensembl
Outerchr5:68973414..68978412hg18UCSC Ensembl
Innerchr5:68973463..68977738hg17UCSC Ensembl
Outerchr5:68973414..68978412hg17UCSC 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 GenesGUSBP3, 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)nssv13246
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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