A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561097



Internal ID16348506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132509852..132512278hg38UCSC Ensembl
Innerchr12:133086438..133088864hg19UCSC Ensembl
Innerchr12:131596511..131598937hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg382427
hg192427
hg182427
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3049n54
Supporting Variantsnssv805907, nssv805906
Samples
Known GenesFBRSL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561097
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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