A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060610



Internal ID18803141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46584143..46677033hg38UCSC Ensembl
Innerchr21:48004056..48096945hg19UCSC Ensembl
Innerchr21:46828484..46921373hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3892891
hg1992890
hg1892890
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4442n100
Supporting Variantsnssv3600331
Samples
Known GenesPRMT2, S100B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060610
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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