A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561096



Internal ID16001819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132509852..132512095hg38UCSC Ensembl
Innerchr12:133086438..133088681hg19UCSC Ensembl
Innerchr12:131596511..131598754hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg382244
hg192244
hg182244
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3050n54
Supporting Variantsnssv805905
Samples
Known GenesFBRSL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561096
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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