A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5789n100



Internal ID20157405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115870559..116111164hg38UCSC Ensembl
chr5:115206256..115446861hg19UCSC Ensembl
chr5:115234155..115474760hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38240606
hg19240606
hg18240606
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1024008, nsv1027117, nsv1021968, nsv1030480, nsv1027418
Samples
Known GenesAP3S1, AQPEP, ARL14EPL, COMMD10
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5789n100
Frequency
Sample Size29084
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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