A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5108n100



Internal ID20156724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:9427573..9828584hg38UCSC Ensembl
chr4:9429299..9830208hg19UCSC Ensembl
chr4:9038397..9439306hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38401012
hg19400910
hg18400910
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv998043, nsv1012634, nsv1012621, nsv1001143, nsv1012865
Samples
Known GenesDEFB131, DRD5, LOC650293, MIR548I2, SLC2A9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5108n100
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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