A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv583n54



Internal ID22768478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:153699771..153720856hg38UCSC Ensembl
chr1:153672247..153693332hg19UCSC Ensembl
chr1:151938871..151959956hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3821086
hg1921086
hg1821086
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547932, nsv547930, nsv547931, nsv547933, nsv547936, nsv547934, nsv547937, nsv547935
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv583n54
Frequency
Sample Size17421
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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