A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13516



Internal ID15488774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70553396..70759963hg38UCSC Ensembl
Outerchr5:70552920..70760872hg38UCSC Ensembl
Innerchr5:69849223..70055790hg19UCSC Ensembl
Outerchr5:69848747..70056699hg19UCSC Ensembl
Innerchr5:69884979..70091546hg18UCSC Ensembl
Outerchr5:69884503..70092455hg18UCSC Ensembl
Innerchr5:69884979..70091546hg17UCSC Ensembl
Outerchr5:69884503..70092455hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38207953
hg19207953
hg18207953
hg17207953
Variant TypeCNV gain
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)nssv13516
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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