A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588002



Internal ID16028725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46575530..46653004hg38UCSC Ensembl
Innerchr21:47995443..48072916hg19UCSC Ensembl
Innerchr21:46819871..46897344hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3877475
hg1977474
hg1877474
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv949413
Samples
Known GenesPRMT2, S100B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588002
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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