A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560193



Internal ID16000916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111539136..111541088hg38UCSC Ensembl
Innerchr12:111976940..111978892hg19UCSC Ensembl
Innerchr12:110461323..110463275hg18UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg381953
hg191953
hg181953
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2869n54
Supporting Variantsnssv802229, nssv802235, nssv802233, nssv802234, nssv802231, nssv802230, nssv802232
Samples
Known GenesATXN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560193
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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