A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5622n100



Internal ID20157238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32101062..32177730hg38UCSC Ensembl
chr5:32101168..32177836hg19UCSC Ensembl
chr5:32136925..32213593hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3876669
hg1976669
hg1876669
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1024164, nsv1020589, nsv1020055, nsv1024202, nsv1021837, nsv1030796, nsv1017817, nsv1022658
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)dgv5622n100
Frequency
Sample Size29084
Observed Gain26
Observed Loss0
Observed Complex0
Frequencyn/a


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