A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4443n100



Internal ID20156059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46561965..46646565hg38UCSC Ensembl
chr21:47981878..48066477hg19UCSC Ensembl
chr21:46806306..46890905hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3884601
hg1984600
hg1884600
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1062401, nsv1060043, nsv1059187, nsv1060740, nsv1066052, nsv1066397
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)dgv4443n100
Frequency
Sample Size29084
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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