A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12892



Internal ID15492420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69938509..70179041hg38UCSC Ensembl
Outerchr5:69937907..70179229hg38UCSC Ensembl
Innerchr5:69234336..69474868hg19UCSC Ensembl
Outerchr5:69233734..69475056hg19UCSC Ensembl
Innerchr5:69270092..69510624hg18UCSC Ensembl
Outerchr5:69269490..69510812hg18UCSC Ensembl
Innerchr5:69270092..69510624hg17UCSC Ensembl
Outerchr5:69269490..69510812hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38241323
hg19241323
hg18241323
hg17241323
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18942
Known GenesSERF1A, SERF1B, SMA4, SMN1, SMN2
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)nssv12892
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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