A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066811



Internal ID18809342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46630476..46677033hg38UCSC Ensembl
Innerchr21:48050388..48096945hg19UCSC Ensembl
Innerchr21:46874816..46921373hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3846558
hg1946558
hg1846558
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4448n100
Supporting Variantsnssv3600348, nssv3600347, nssv3600349
Samples
Known GenesPRMT2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066811
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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