A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5468n100



Internal ID20157084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:169556300..169638988hg38UCSC Ensembl
chr4:170477451..170560139hg19UCSC Ensembl
chr4:170714026..170796714hg18UCSC Ensembl
Cytoband4q33
Allele length
AssemblyAllele length
hg3882689
hg1982689
hg1882689
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1021245, nsv1020345, nsv1017648, nsv1021387
Samples
Known GenesCLCN3, NEK1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5468n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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