A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561081



Internal ID16348490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132508641..132512095hg38UCSC Ensembl
Innerchr12:133085227..133088681hg19UCSC Ensembl
Innerchr12:131595300..131598754hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg383455
hg193455
hg183455
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3047n54
Supporting Variantsnssv805872
Samples
Known GenesFBRSL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561081
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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