A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560187



Internal ID16000910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111538972..111541516hg38UCSC Ensembl
Innerchr12:111976776..111979320hg19UCSC Ensembl
Innerchr12:110461159..110463703hg18UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg382545
hg192545
hg182545
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2870n54
Supporting Variantsnssv802151, nssv802149, nssv802150, nssv802147, nssv802148, nssv802146
Samples
Known GenesATXN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560187
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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