A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5194n100



Internal ID20156810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39916983..40119942hg38UCSC Ensembl
chr4:39918603..40121562hg19UCSC Ensembl
chr4:39594998..39797957hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38202960
hg19202960
hg18202960
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1005546, nsv1014191
Samples
Known GenesLOC344967, N4BP2, PDS5A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5194n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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