A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25641



Internal ID15489476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46636993..46638319hg38UCSC Ensembl
Outerchr21:46636625..46638717hg38UCSC Ensembl
Innerchr21:48056905..48058231hg19UCSC Ensembl
Outerchr21:48056537..48058629hg19UCSC Ensembl
Innerchr21:46881333..46882659hg18UCSC Ensembl
Outerchr21:46880965..46883057hg18UCSC Ensembl
Innerchr21:46881333..46882659hg17UCSC Ensembl
Outerchr21:46880965..46883057hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382093
hg192093
hg182093
hg172093
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9864
Supporting Variants
SamplesNA18563
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)nssv25641
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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