A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24407



Internal ID15480675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:63669676..63672663hg38UCSC Ensembl
Outerchr20:63668275..63673766hg38UCSC Ensembl
Innerchr20:62301029..62304016hg19UCSC Ensembl
Outerchr20:62299628..62305119hg19UCSC Ensembl
Innerchr20:61771473..61774460hg18UCSC Ensembl
Outerchr20:61770072..61775563hg18UCSC Ensembl
Innerchr20:61771473..61774460hg17UCSC Ensembl
Outerchr20:61770072..61775563hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg385492
hg195492
hg185492
hg175492
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9828
Supporting Variants
SamplesNA07029
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)nssv24407
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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