A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14116



Internal ID15835385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:138472497..138483131hg38UCSC Ensembl
Outerchr5:138472023..138485327hg38UCSC Ensembl
Innerchr5:137808186..137818820hg19UCSC Ensembl
Outerchr5:137807712..137821016hg19UCSC Ensembl
Innerchr5:137836085..137846719hg18UCSC Ensembl
Outerchr5:137835611..137848915hg18UCSC Ensembl
Innerchr5:137836085..137846719hg17UCSC Ensembl
Outerchr5:137835611..137848915hg17UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3813305
hg1913305
hg1813305
hg1713305
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10751
Supporting Variants
SamplesNA18552
Known Genes
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)nssv14116
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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