A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561090



Internal ID16348499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132509376..132511579hg38UCSC Ensembl
Innerchr12:133085962..133088165hg19UCSC Ensembl
Innerchr12:131596035..131598238hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg382204
hg192204
hg182204
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3048n54
Supporting Variantsnssv805890, nssv805891
Samples
Known GenesFBRSL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561090
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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