A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27714



Internal ID15834198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:64011831..64012890hg38UCSC Ensembl
Outerchr20:64011694..64013273hg38UCSC Ensembl
Innerchr20:62643184..62644243hg19UCSC Ensembl
Outerchr20:62643047..62644626hg19UCSC Ensembl
Innerchr20:62113628..62114687hg18UCSC Ensembl
Outerchr20:62113491..62115070hg18UCSC Ensembl
Innerchr20:62113628..62114687hg17UCSC Ensembl
Outerchr20:62113491..62115070hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381580
hg191580
hg181580
hg171580
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9831
Supporting Variants
SamplesNA18517
Known GenesPRPF6
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)nssv27714
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