A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9781



Internal ID15501007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:2224399..2385324hg38UCSC Ensembl
Outerchr20:2205045..2365970hg19UCSC Ensembl
Outerchr20:2153045..2313970hg18UCSC Ensembl
Outerchr20:2153045..2313970hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38160926
hg19160926
hg18160926
hg17160926
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv25577, nssv27674, nssv25980
SamplesNA18502, NA18980, NA18537
Known GenesTGM3, TGM6
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)nsv9781
Frequency
Sample Size31
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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