A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9793n54



Internal ID22777688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56951292..56952002hg38UCSC Ensembl
chr5:56247119..56247829hg19UCSC Ensembl
chr5:56282876..56283586hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38711
hg19711
hg18711
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598212, nsv598219, nsv598217, nsv598213
Samples
Known GenesMIER3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9793n54
Frequency
Sample Size17421
Observed Gain6
Observed Loss5
Observed Complex0
Frequencyn/a


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