A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4985n54



Internal ID20138409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28822935..28824174hg38UCSC Ensembl
chr16:28834256..28835495hg19UCSC Ensembl
chr16:28741757..28742996hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381240
hg191240
hg181240
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv571796, nsv571795, nsv571794, nsv571802, nsv571804
Samples
Known GenesATXN2L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4985n54
Frequency
Sample Size17421
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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