A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4437n100



Internal ID20156053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45453955..45546266hg38UCSC Ensembl
chr21:46873869..46966180hg19UCSC Ensembl
chr21:45698297..45790608hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3892312
hg1992312
hg1892312
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1064303, nsv1055493, nsv1057386
Samples
Known GenesCOL18A1, MIR6815, SLC19A1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4437n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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