A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9794n54



Internal ID22777689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56951292..56952278hg38UCSC Ensembl
chr5:56247119..56248105hg19UCSC Ensembl
chr5:56282876..56283862hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38987
hg19987
hg18987
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598223, nsv598220, nsv598218, nsv598224, nsv598225, nsv598221, nsv598214, nsv598226
Samples
Known GenesMIER3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9794n54
Frequency
Sample Size17421
Observed Gain19
Observed Loss0
Observed Complex0
Frequencyn/a


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