A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4442n100



Internal ID20156058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46551020..46677033hg38UCSC Ensembl
chr21:47970933..48096945hg19UCSC Ensembl
chr21:46795361..46921373hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38126014
hg19126013
hg18126013
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1055904, nsv1063191, nsv1060610, nsv1058462, nsv1059012, nsv1056734, nsv1064633, nsv1061638, nsv1062457, nsv1059493
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)dgv4442n100
Frequency
Sample Size29084
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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