A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9865



Internal ID15501091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:46648026..46652423hg38UCSC Ensembl
Outerchr21:48067938..48072335hg19UCSC Ensembl
Outerchr21:46892366..46896763hg18UCSC Ensembl
Outerchr21:46892366..46896763hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg384398
hg194398
hg184398
hg174398
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28690
SamplesNA19221
Known GenesPRMT2
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)nsv9865
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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