A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8878



Internal ID15846790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:130477293..130479855hg38UCSC Ensembl
Outerchr11:130347188..130349750hg19UCSC Ensembl
Outerchr11:129852398..129854960hg18UCSC Ensembl
Outerchr11:129852398..129854960hg17UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg382563
hg192563
hg182563
hg172563
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv20549, nssv18652
SamplesNA18942, NA19173
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)nsv8878
Frequency
Sample Size31
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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