A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4984n54



Internal ID20138408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28822935..28824047hg38UCSC Ensembl
chr16:28834256..28835368hg19UCSC Ensembl
chr16:28741757..28742869hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381113
hg191113
hg181113
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv571797, nsv571801, nsv571793, nsv571798
Samples
Known GenesATXN2L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4984n54
Frequency
Sample Size17421
Observed Gain12
Observed Loss7
Observed Complex0
Frequencyn/a


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