A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv18n54



Internal ID20133442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1028484..1038387hg38UCSC Ensembl
chr1:963864..973767hg19UCSC Ensembl
chr1:953727..963630hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg389904
hg199904
hg189904
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv544938, nsv544939, nsv544943, nsv544942
Samples
Known GenesAGRN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv18n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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