A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv502n54



Internal ID18992678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109709850..109714906hg38UCSC Ensembl
chr1:110252472..110257528hg19UCSC Ensembl
chr1:110053995..110059051hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg385057
hg195057
hg185057
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547497, nsv547494, nsv547496
Samples
Known GenesGSTM5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv502n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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