A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27676



Internal ID15834164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:46333644..46334579hg38UCSC Ensembl
Outerchr20:46333087..46335427hg38UCSC Ensembl
Innerchr20:44962282..44963217hg19UCSC Ensembl
Outerchr20:44961725..44964065hg19UCSC Ensembl
Innerchr20:44395689..44396624hg18UCSC Ensembl
Outerchr20:44395132..44397472hg18UCSC Ensembl
Innerchr20:44395689..44396624hg17UCSC Ensembl
Outerchr20:44395132..44397472hg17UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg382341
hg192341
hg182341
hg172341
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9811
Supporting Variants
SamplesNA18517
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)nssv27676
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