A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9786n54



Internal ID22777681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:54015672..54459378hg38UCSC Ensembl
chr5:53311502..53755208hg19UCSC Ensembl
chr5:53347259..53790965hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38443707
hg19443707
hg18443707
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598176, nsv598177
Samples
Known GenesARL15, HSPB3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9786n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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