A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13306



Internal ID15488800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69936364..70092948hg38UCSC Ensembl
Outerchr5:69934027..70093754hg38UCSC Ensembl
Innerchr5:69232191..69388775hg19UCSC Ensembl
Outerchr5:69229854..69389581hg19UCSC Ensembl
Innerchr5:69267947..69424531hg18UCSC Ensembl
Outerchr5:69265610..69425337hg18UCSC Ensembl
Innerchr5:69267947..69424531hg17UCSC Ensembl
Outerchr5:69265610..69425337hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38159728
hg19159728
hg18159728
hg17159728
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18552
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)nssv13306
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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