A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561087



Internal ID16348496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132509130..132511784hg38UCSC Ensembl
Innerchr12:133085716..133088370hg19UCSC Ensembl
Innerchr12:131595789..131598443hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg382655
hg192655
hg182655
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3048n54
Supporting Variantsnssv805883, nssv805884, nssv805885
Samples
Known GenesFBRSL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561087
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer