A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26600



Internal ID15495856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:63669676..63670417hg38UCSC Ensembl
Outerchr20:63668275..63672663hg38UCSC Ensembl
Innerchr20:62301029..62301770hg19UCSC Ensembl
Outerchr20:62299628..62304016hg19UCSC Ensembl
Innerchr20:61771473..61772214hg18UCSC Ensembl
Outerchr20:61770072..61774460hg18UCSC Ensembl
Innerchr20:61771473..61772214hg17UCSC Ensembl
Outerchr20:61770072..61774460hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg384389
hg194389
hg184389
hg174389
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9828
Supporting Variants
SamplesNA19144
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)nssv26600
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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