A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4445n100



Internal ID20156061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46601742..46632926hg38UCSC Ensembl
chr21:48021655..48052838hg19UCSC Ensembl
chr21:46846083..46877266hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3831185
hg1931184
hg1831184
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1059433, nsv1062589
Samples
Known GenesS100B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4445n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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