A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587492



Internal ID16028215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:41137896..41175967hg38UCSC Ensembl
Innerchr21:42509823..42547894hg19UCSC Ensembl
Innerchr21:41431693..41469764hg18UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3838072
hg1938072
hg1838072
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv946787
Samples
Known GenesBACE2, LINC00323, MIR3197, PLAC4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587492
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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