A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14847



Internal ID15495518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69660659..69662409hg38UCSC Ensembl
Outerchr5:69660391..69663059hg38UCSC Ensembl
Innerchr5:68956486..68958236hg19UCSC Ensembl
Outerchr5:68956218..68958886hg19UCSC Ensembl
Innerchr5:68992242..68993992hg18UCSC Ensembl
Outerchr5:68991974..68994642hg18UCSC Ensembl
Innerchr5:68992242..68993992hg17UCSC Ensembl
Outerchr5:68991974..68994642hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg382669
hg192669
hg182669
hg172669
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA19132
Known GenesGUSBP3, SMA4
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)nssv14847
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