A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13370



Internal ID15491028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70058746..70101587hg38UCSC Ensembl
Outerchr5:70054856..70103139hg38UCSC Ensembl
Innerchr5:69354573..69397414hg19UCSC Ensembl
Outerchr5:69350683..69398966hg19UCSC Ensembl
Innerchr5:69390329..69433170hg18UCSC Ensembl
Outerchr5:69386439..69434722hg18UCSC Ensembl
Innerchr5:69390329..69433170hg17UCSC Ensembl
Outerchr5:69386439..69434722hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3848284
hg1948284
hg1848284
hg1748284
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18853
Known GenesSMA4, 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)nssv13370
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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