A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15141



Internal ID15491505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70613249..70624583hg38UCSC Ensembl
Outerchr5:70613232..70625627hg38UCSC Ensembl
Innerchr5:69909076..69920410hg19UCSC Ensembl
Outerchr5:69909059..69921454hg19UCSC Ensembl
Innerchr5:69944832..69956166hg18UCSC Ensembl
Outerchr5:69944815..69957210hg18UCSC Ensembl
Innerchr5:69944832..69956166hg17UCSC Ensembl
Outerchr5:69944815..69957210hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3812396
hg1912396
hg1812396
hg1712396
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18860
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)nssv15141
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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