A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14937



Internal ID15494882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70121416..70128046hg38UCSC Ensembl
Outerchr5:70119992..70128569hg38UCSC Ensembl
Innerchr5:69417243..69423873hg19UCSC Ensembl
Outerchr5:69415819..69424396hg19UCSC Ensembl
Innerchr5:69452999..69459629hg18UCSC Ensembl
Outerchr5:69451575..69460152hg18UCSC Ensembl
Innerchr5:69452999..69459629hg17UCSC Ensembl
Outerchr5:69451575..69460152hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg388578
hg198578
hg188578
hg178578
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA19132
Known GenesSMA4
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)nssv14937
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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