A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571798



Internal ID16012521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28823100..28824047hg38UCSC Ensembl
Innerchr16:28834421..28835368hg19UCSC Ensembl
Innerchr16:28741922..28742869hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38948
hg19948
hg18948
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4984n54
Supporting Variantsnssv855467, nssv855468, nssv855469
Samples
Known GenesATXN2L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571798
Frequency
Sample Size17421
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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