A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15374



Internal ID15487438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70545286..70770807hg38UCSC Ensembl
Outerchr5:70544334..70771157hg38UCSC Ensembl
Innerchr5:69841113..70066634hg19UCSC Ensembl
Outerchr5:69840161..70066984hg19UCSC Ensembl
Innerchr5:69876869..70102390hg18UCSC Ensembl
Outerchr5:69875917..70102740hg18UCSC Ensembl
Innerchr5:69876869..70102390hg17UCSC Ensembl
Outerchr5:69875917..70102740hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38226824
hg19226824
hg18226824
hg17226824
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18517
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)nssv15374
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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