A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10521



Internal ID15498798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:69014714..69017505hg38UCSC Ensembl
Outerchr4:69880432..69883223hg19UCSC Ensembl
Outerchr4:69915021..69917812hg18UCSC Ensembl
Outerchr4:70061192..70063983hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg382792
hg192792
hg182792
hg172792
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13317
SamplesNA19132
Known GenesUGT2B10
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)nsv10521
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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