A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv802039



Internal ID15749309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111536476..111540579hg38UCSC Ensembl
Innerchr12:111974280..111978383hg19UCSC Ensembl
Innerchr12:110458663..110462766hg18UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg384104
hg194104
hg184104
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560179
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)nssv802039
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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