A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15027



Internal ID15494930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70464384..70480458hg38UCSC Ensembl
Outerchr5:70464028..70481848hg38UCSC Ensembl
Innerchr5:69760211..69776285hg19UCSC Ensembl
Outerchr5:69759855..69777675hg19UCSC Ensembl
Innerchr5:69795967..69812041hg18UCSC Ensembl
Outerchr5:69795611..69813431hg18UCSC Ensembl
Innerchr5:69795967..69812041hg17UCSC Ensembl
Outerchr5:69795611..69813431hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3817821
hg1917821
hg1817821
hg1717821
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA19132
Known GenesSMA4, 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)nssv15027
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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