A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13494



Internal ID15493655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70901786..70955873hg38UCSC Ensembl
Outerchr5:70901080..70963333hg38UCSC Ensembl
Innerchr5:70197613..70251700hg19UCSC Ensembl
Outerchr5:70196907..70259160hg19UCSC Ensembl
Innerchr5:70233369..70287456hg18UCSC Ensembl
Outerchr5:70232663..70294916hg18UCSC Ensembl
Innerchr5:70233369..70287456hg17UCSC Ensembl
Outerchr5:70232663..70294916hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3862254
hg1962254
hg1862254
hg1762254
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18975
Known GenesSERF1A, SERF1B, 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)nssv13494
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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