A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9827



Internal ID15501053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63648841..63653792hg38UCSC Ensembl
Outerchr20:62280194..62285145hg19UCSC Ensembl
Outerchr20:61750638..61755589hg18UCSC Ensembl
Outerchr20:61750638..61755589hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg384952
hg194952
hg184952
hg174952
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv26586, nssv22391, nssv27211, nssv25227
SamplesNA18504, NA12872, NA18853, NA19144
Known GenesSTMN3
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)nsv9827
Frequency
Sample Size31
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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