A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13226



Internal ID15494497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70635089..70645014hg38UCSC Ensembl
Outerchr5:70634377..70645477hg38UCSC Ensembl
Innerchr5:69930916..69940841hg19UCSC Ensembl
Outerchr5:69930204..69941304hg19UCSC Ensembl
Innerchr5:69966672..69976597hg18UCSC Ensembl
Outerchr5:69965960..69977060hg18UCSC Ensembl
Innerchr5:69966672..69976597hg17UCSC Ensembl
Outerchr5:69965960..69977060hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3811101
hg1911101
hg1811101
hg1711101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
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)nssv13226
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer