A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5623n100



Internal ID20157239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32106978..32137743hg38UCSC Ensembl
chr5:32107084..32137849hg19UCSC Ensembl
chr5:32142841..32173606hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3830766
hg1930766
hg1830766
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1017933, nsv1033120
Samples
Known GenesGOLPH3, PDZD2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5623n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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