A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv563n100



Internal ID19010931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:205101394..205152107hg38UCSC Ensembl
chr1:205070522..205121235hg19UCSC Ensembl
chr1:203337145..203387858hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3850714
hg1950714
hg1850714
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1008277, nsv1006398
Samples
Known GenesDSTYK, RBBP5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv563n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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