A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560189



Internal ID16000912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111538972..111541870hg38UCSC Ensembl
Innerchr12:111976776..111979674hg19UCSC Ensembl
Innerchr12:110461159..110464057hg18UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg382899
hg192899
hg182899
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2870n54
Supporting Variantsnssv802216, nssv802199, nssv802217, nssv802203, nssv802213, nssv802205, nssv802207, nssv802208, nssv802206, nssv802209, nssv802204, nssv802214, nssv802201, nssv802202, nssv802210, nssv802200, nssv802198, nssv802215, nssv802212, nssv802211
Samples
Known GenesATXN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560189
Frequency
Sample Size17421
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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