A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14369



Internal ID15843232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:166411950..166501283hg38UCSC Ensembl
Outerchr5:166411509..166582158hg38UCSC Ensembl
Innerchr5:165838955..165928288hg19UCSC Ensembl
Outerchr5:165838514..166009163hg19UCSC Ensembl
Innerchr5:165771533..165860866hg18UCSC Ensembl
Outerchr5:165771092..165941741hg18UCSC Ensembl
Innerchr5:165771533..165860866hg17UCSC Ensembl
Outerchr5:165771092..165941741hg17UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38170650
hg19170650
hg18170650
hg17170650
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10769
Supporting Variants
SamplesNA19173
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)nssv14369
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