A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560191



Internal ID16000914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111538972..111547818hg38UCSC Ensembl
Innerchr12:111976776..111985622hg19UCSC Ensembl
Innerchr12:110461159..110470005hg18UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg388847
hg198847
hg188847
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2871n54
Supporting Variantsnssv802222, nssv802224, nssv802223, nssv802225
Samples
Known GenesATXN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560191
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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