A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9828



Internal ID15501054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63668275..63673766hg38UCSC Ensembl
Outerchr20:62299628..62305119hg19UCSC Ensembl
Outerchr20:61770072..61775563hg18UCSC Ensembl
Outerchr20:61770072..61775563hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg385492
hg195492
hg185492
hg175492
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv25550, nssv26600, nssv22698, nssv24407
SamplesNA07029, NA18572, NA18564, NA19144
Known GenesRTEL1, RTEL1-TNFRSF6B
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)nsv9828
Frequency
Sample Size31
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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