A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4590n100



Internal ID20156206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48919982..49614598hg38UCSC Ensembl
chr22:49315794..50008246hg19UCSC Ensembl
chr22:47701798..48394250hg18UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg38694617
hg19692453
hg18692453
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1056135, nsv1059523, nsv1061293, nsv1065501, nsv1062396, nsv1063017
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4590n100
Frequency
Sample Size29084
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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