A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560199



Internal ID16000922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111539136..111542046hg38UCSC Ensembl
Innerchr12:111976940..111979850hg19UCSC Ensembl
Innerchr12:110461323..110464233hg18UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg382911
hg192911
hg182911
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2870n54
Supporting Variantsnssv802277, nssv802278
Samples
Known GenesATXN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560199
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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