A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5920n100



Internal ID22792007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:16387952..16402466hg38UCSC Ensembl
chr6:16388183..16402697hg19UCSC Ensembl
chr6:16496162..16510676hg18UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3814515
hg1914515
hg1814515
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1019007, nsv1030591, nsv1031291, nsv1018418, nsv1034286, nsv1023579
Samples
Known GenesATXN1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5920n100
Frequency
Sample Size11257
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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