A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5948n54



Internal ID20139372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:54717359..54726513hg38UCSC Ensembl
chr18:52384590..52393744hg19UCSC Ensembl
chr18:50535588..50544742hg18UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg389155
hg199155
hg189155
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv576991, nsv576990
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5948n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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