A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13315



Internal ID15840925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:17631177..17635285hg38UCSC Ensembl
Outerchr5:17630666..17636715hg38UCSC Ensembl
Innerchr5:17631286..17635394hg19UCSC Ensembl
Outerchr5:17630775..17636824hg19UCSC Ensembl
Innerchr5:17663984..17668092hg18UCSC Ensembl
Outerchr5:17663473..17669522hg18UCSC Ensembl
Innerchr5:17663984..17668092hg17UCSC Ensembl
Outerchr5:17663473..17669522hg17UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg386050
hg196050
hg186050
hg176050
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10674
Supporting Variants
SamplesNA18980
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)nssv13315
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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