A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561105



Internal ID16348514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132540903..132584760hg38UCSC Ensembl
Innerchr12:133117489..133161346hg19UCSC Ensembl
Innerchr12:131627562..131671419hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3843858
hg1943858
hg1843858
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175899
Samples1780862444_A
Known GenesFBRSL1, MIR6763
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561105
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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