A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8941



Internal ID15846853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:31846758..31910665hg38UCSC Ensembl
Outerchr12:31999692..32063599hg19UCSC Ensembl
Outerchr12:31890959..31954866hg18UCSC Ensembl
Outerchr12:31890959..31954866hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3863908
hg1963908
hg1863908
hg1763908
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv21489
SamplesNA12740
Known Genes
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)nsv8941
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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