A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv880n54



Internal ID20134304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243619472..243620430hg38UCSC Ensembl
chr1:243782774..243783732hg19UCSC Ensembl
chr1:241849397..241850355hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38959
hg19959
hg18959
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549485, nsv549489, nsv549481, nsv549484, nsv549486, nsv549487, nsv549482
Samples
Known GenesAKT3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv880n54
Frequency
Sample Size17421
Observed Gain45
Observed Loss0
Observed Complex0
Frequencyn/a


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