A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560197



Internal ID16000920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111539136..111541704hg38UCSC Ensembl
Innerchr12:111976940..111979508hg19UCSC Ensembl
Innerchr12:110461323..110463891hg18UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg382569
hg192569
hg182569
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2870n54
Supporting Variantsnssv802269, nssv802272, nssv802265, nssv802262, nssv802267, nssv802264, nssv802270, nssv802268, nssv802263, nssv802271, nssv802266
Samples
Known GenesATXN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560197
Frequency
Sample Size17421
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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