A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5619n100



Internal ID20157235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31199804..31471735hg38UCSC Ensembl
chr5:31199911..31471842hg19UCSC Ensembl
chr5:31235668..31507599hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38271932
hg19271932
hg18271932
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1026973, nsv1019391, nsv1016702
Samples
Known GenesCDH6, DROSHA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5619n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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