A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv586n100



Internal ID20152202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235367709..235547476hg38UCSC Ensembl
chr1:235531024..235710776hg19UCSC Ensembl
chr1:233597647..233777399hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38179768
hg19179753
hg18179753
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1007248, nsv1009846, nsv1006078
Samples
Known GenesB3GALNT2, TBCE
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv586n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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