A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4436n100



Internal ID20156052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45402338..45556768hg38UCSC Ensembl
chr21:46822253..46976682hg19UCSC Ensembl
chr21:45646681..45801110hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38154431
hg19154430
hg18154430
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1056917, nsv1066282, nsv1057447, nsv1062107, nsv1059083
Samples
Known GenesCOL18A1, COL18A1-AS1, COL18A1-AS2, 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)dgv4436n100
Frequency
Sample Size29084
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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