A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5523n100



Internal ID22791610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:653454..790474hg38UCSC Ensembl
chr5:653569..790589hg19UCSC Ensembl
chr5:706569..843589hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38137021
hg19137021
hg18137021
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1030034, nsv1020069, nsv1020443, nsv1019851, nsv1024461, nsv1026609, nsv1026400, nsv1033288, nsv1029631, nsv1017839, nsv1022106, nsv1029125, nsv1021323, nsv1020993, nsv1020481, nsv1032508, nsv1032335, nsv1027587, nsv1022923, nsv1017450
Samples
Known GenesCEP72, TPPP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5523n100
Frequency
Sample Size11257
Observed Gain33
Observed Loss0
Observed Complex0
Frequencyn/a


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