A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571794



Internal ID16012517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28822935..28823995hg38UCSC Ensembl
Innerchr16:28834256..28835316hg19UCSC Ensembl
Innerchr16:28741757..28742817hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381061
hg191061
hg181061
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4985n54
Supporting Variantsnssv855450, nssv855451, nssv855453, nssv855452
Samples
Known GenesATXN2L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571794
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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