A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13464



Internal ID15493648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69938509..70179633hg38UCSC Ensembl
Outerchr5:69937907..70180239hg38UCSC Ensembl
Innerchr5:69234336..69475460hg19UCSC Ensembl
Outerchr5:69233734..69476066hg19UCSC Ensembl
Innerchr5:69270092..69511216hg18UCSC Ensembl
Outerchr5:69269490..69511822hg18UCSC Ensembl
Innerchr5:69270092..69511216hg17UCSC Ensembl
Outerchr5:69269490..69511822hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38242333
hg19242333
hg18242333
hg17242333
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18975
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)nssv13464
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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