A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571801



Internal ID16012524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28823204..28824047hg38UCSC Ensembl
Innerchr16:28834525..28835368hg19UCSC Ensembl
Innerchr16:28742026..28742869hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38844
hg19844
hg18844
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4984n54
Supporting Variantsnssv855473, nssv855472, nssv855474
Samples
Known GenesATXN2L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571801
Frequency
Sample Size17421
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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