A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12952



Internal ID15492170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70813549..70901786hg38UCSC Ensembl
Outerchr5:70812947..70902375hg38UCSC Ensembl
Innerchr5:70109376..70197613hg19UCSC Ensembl
Outerchr5:70108774..70198202hg19UCSC Ensembl
Innerchr5:70145132..70233369hg18UCSC Ensembl
Outerchr5:70144530..70233958hg18UCSC Ensembl
Innerchr5:70145132..70233369hg17UCSC Ensembl
Outerchr5:70144530..70233958hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3889429
hg1989429
hg1889429
hg1789429
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18942
Known GenesSERF1A, SERF1B, 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)nssv12952
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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