A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv680n54



Internal ID22768575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:188998225..189148039hg38UCSC Ensembl
chr1:188967356..189117170hg19UCSC Ensembl
chr1:187233979..187383793hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38149815
hg19149815
hg18149815
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548488, nsv548487, nsv548486
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv680n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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