A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9978n54



Internal ID22777873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:103889473..103923235hg38UCSC Ensembl
chr5:103225174..103258936hg19UCSC Ensembl
chr5:103253073..103286835hg18UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg3833763
hg1933763
hg1833763
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv599197, nsv599198
SamplesHGDP00189, NINDS_42
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9978n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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