A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9864



Internal ID15501090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:46635808..46638717hg38UCSC Ensembl
Outerchr21:48055720..48058629hg19UCSC Ensembl
Outerchr21:46880148..46883057hg18UCSC Ensembl
Outerchr21:46880148..46883057hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382910
hg192910
hg182910
hg172910
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv25641, nssv27781, nssv24345
SamplesNA18563, NA18942, NA18972
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)nsv9864
Frequency
Sample Size31
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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