A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062457



Internal ID18804988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46555896..46677033hg38UCSC Ensembl
Innerchr21:47975809..48096945hg19UCSC Ensembl
Innerchr21:46800237..46921373hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38121138
hg19121137
hg18121137
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4442n100
Supporting Variantsnssv3600310, nssv3600309
Samples
Known GenesDIP2A, PRMT2, S100B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062457
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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