A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4986n54



Internal ID20138410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28823204..28824047hg38UCSC Ensembl
chr16:28834525..28835368hg19UCSC Ensembl
chr16:28742026..28742869hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38844
hg19844
hg18844
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv571800, nsv571803
Samples
Known GenesATXN2L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4986n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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