A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7899n54



Internal ID19000075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45160455..45419989hg38UCSC Ensembl
chr21:46580370..46839904hg19UCSC Ensembl
chr21:45404798..45664332hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38259535
hg19259535
hg18259535
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv587840, nsv587839
Samples
Known GenesADARB1, COL18A1, COL18A1-AS1, COL18A1-AS2, LINC00316, LOC642852, POFUT2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7899n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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