A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15284



Internal ID15487477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70238012..70247089hg38UCSC Ensembl
Outerchr5:70237651..70247217hg38UCSC Ensembl
Innerchr5:69533839..69542916hg19UCSC Ensembl
Outerchr5:69533478..69543044hg19UCSC Ensembl
Innerchr5:69569595..69578672hg18UCSC Ensembl
Outerchr5:69569234..69578800hg18UCSC Ensembl
Innerchr5:69569595..69578672hg17UCSC Ensembl
Outerchr5:69569234..69578800hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg389567
hg199567
hg189567
hg179567
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18517
Known GenesGUSBP9, 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)nssv15284
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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