A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13496



Internal ID15841215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:138472023..138479722hg38UCSC Ensembl
Outerchr5:138471157..138481371hg38UCSC Ensembl
Innerchr5:137807712..137815411hg19UCSC Ensembl
Outerchr5:137806846..137817060hg19UCSC Ensembl
Innerchr5:137835611..137843310hg18UCSC Ensembl
Outerchr5:137834745..137844959hg18UCSC Ensembl
Innerchr5:137835611..137843310hg17UCSC Ensembl
Outerchr5:137834745..137844959hg17UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3810215
hg1910215
hg1810215
hg1710215
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10751
Supporting Variants
SamplesNA19007
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)nssv13496
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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