A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv820n54



Internal ID22768715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216456074..216477191hg38UCSC Ensembl
chr1:216629416..216650533hg19UCSC Ensembl
chr1:214696039..214717156hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3821118
hg1921118
hg1821118
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549200, nsv549202, nsv549201
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv820n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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