A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv855443



Internal ID15802713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28820038..28823849hg38UCSC Ensembl
Innerchr16:28831359..28835170hg19UCSC Ensembl
Innerchr16:28738860..28742671hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg383812
hg193812
hg183812
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv571792
Supporting Variants
Samples
Known GenesATXN2L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv855443
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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