A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560179



Internal ID16000902
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 StatusM
Merged Variantsdgv2867n54
Supporting Variantsnssv802039
Samples
Known GenesATXN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560179
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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