A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv481n54



Internal ID20133905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:108191540..108450466hg38UCSC Ensembl
chr1:108734162..108993088hg19UCSC Ensembl
chr1:108535685..108794611hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38258927
hg19258927
hg18258927
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547401, nsv547384
Samples
Known GenesNBPF4, NBPF6, SLC25A24
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv481n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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