A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10321



Internal ID15845284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:129955925..129961562hg38UCSC Ensembl
Outerchr3:129674768..129680405hg19UCSC Ensembl
Outerchr3:131157458..131163095hg18UCSC Ensembl
Outerchr3:131157466..131163103hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg385638
hg195638
hg185638
hg175638
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv11464, nssv12308
SamplesNA12155, NA10839
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)nsv10321
Frequency
Sample Size31
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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