A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv588n54



Internal ID20134012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:157260479..157390962hg38UCSC Ensembl
chr1:157230269..157360752hg19UCSC Ensembl
chr1:155496893..155627376hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38130484
hg19130484
hg18130484
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547981, nsv547980
Samples1780854341_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv588n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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