A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560195



Internal ID16000918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111539136..111541256hg38UCSC Ensembl
Innerchr12:111976940..111979060hg19UCSC Ensembl
Innerchr12:110461323..110463443hg18UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg382121
hg192121
hg182121
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2869n54
Supporting Variantsnssv802242, nssv802257, nssv802250, nssv802240, nssv802258, nssv802238, nssv802241, nssv802239, nssv802252, nssv802259, nssv802251, nssv802245, nssv802254, nssv802248, nssv802256, nssv802247, nssv802244, nssv802253, nssv802255, nssv802243, nssv802246, nssv802249
Samples
Known GenesATXN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560195
Frequency
Sample Size17421
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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