A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5081n100



Internal ID19015449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1676066..1710725hg38UCSC Ensembl
chr4:1677793..1712452hg19UCSC Ensembl
chr4:1647591..1682250hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3834660
hg1934660
hg1834660
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1014440, nsv1011292
Samples
Known GenesFAM53A, SLBP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5081n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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