A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4943n54



Internal ID22772838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:20467402..20518912hg38UCSC Ensembl
chr16:20478724..20530234hg19UCSC Ensembl
chr16:20386225..20437735hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3851511
hg1951511
hg1851511
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv571619, nsv571618
SamplesHGDP00462, HGDP00932
Known GenesACSM2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4943n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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