A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5794n100



Internal ID22791881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:119170653..119264696hg38UCSC Ensembl
chr5:118506348..118600391hg19UCSC Ensembl
chr5:118534247..118628290hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3894044
hg1994044
hg1894044
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1031914, nsv1034616
Samples
Known GenesDMXL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5794n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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