A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561089



Internal ID16348498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132509130..132512468hg38UCSC Ensembl
Innerchr12:133085716..133089054hg19UCSC Ensembl
Innerchr12:131595789..131599127hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg383339
hg193339
hg183339
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3047n54
Supporting Variantsnssv805889, nssv805888, nssv805887
Samples
Known GenesFBRSL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561089
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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