A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13187



Internal ID15489115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71128007..71182254hg38UCSC Ensembl
Outerchr5:71127806..71184491hg38UCSC Ensembl
Innerchr5:70423834..70478081hg19UCSC Ensembl
Outerchr5:70423633..70480318hg19UCSC Ensembl
Innerchr5:70459590..70513837hg18UCSC Ensembl
Outerchr5:70459389..70516074hg18UCSC Ensembl
Innerchr5:70459590..70513837hg17UCSC Ensembl
Outerchr5:70459389..70516074hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3856686
hg1956686
hg1856686
hg1756686
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18563
Known GenesNAIP
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)nssv13187
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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