A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9788n54



Internal ID20143212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56815030..56816100hg38UCSC Ensembl
chr5:56110857..56111927hg19UCSC Ensembl
chr5:56146614..56147684hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg381071
hg191071
hg181071
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598195, nsv598199, nsv598194, nsv598191, nsv598188
Samples
Known GenesMAP3K1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9788n54
Frequency
Sample Size17421
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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