A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5373n100



Internal ID20156989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:119086758..119222694hg38UCSC Ensembl
chr4:120007913..120143849hg19UCSC Ensembl
chr4:120227361..120363297hg18UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38135937
hg19135937
hg18135937
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1007214, nsv1007619, nsv1008115, nsv1003827
Samples
Known GenesMYOZ2, USP53
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5373n100
Frequency
Sample Size29084
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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