A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4983n54



Internal ID20138407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28811452..28824047hg38UCSC Ensembl
chr16:28822773..28835368hg19UCSC Ensembl
chr16:28730274..28742869hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3812596
hg1912596
hg1812596
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv571791, nsv571790
Samples
Known GenesATXN2L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4983n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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