A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4446n100



Internal ID20156062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46601742..46654452hg38UCSC Ensembl
chr21:48021655..48074364hg19UCSC Ensembl
chr21:46846083..46898792hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3852711
hg1952710
hg1852710
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1056101, nsv1056608, nsv1061246
Samples
Known GenesPRMT2, S100B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4446n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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