A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv802029



Internal ID15749299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111533429..111541256hg38UCSC Ensembl
Innerchr12:111971233..111979060hg19UCSC Ensembl
Innerchr12:110455616..110463443hg18UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg387828
hg197828
hg187828
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560174
Supporting Variants
Samples
Known GenesATXN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv802029
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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