A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062401



Internal ID18804932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46563744..46646565hg38UCSC Ensembl
Innerchr21:47983657..48066477hg19UCSC Ensembl
Innerchr21:46808085..46890905hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3882822
hg1982821
hg1882821
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4443n100
Supporting Variantsnssv3600322
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)nsv1062401
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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