A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560347



Internal ID16347756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:117185846..117205262hg38UCSC Ensembl
Innerchr12:117623651..117643067hg19UCSC Ensembl
Innerchr12:116108034..116127450hg18UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg3819417
hg1919417
hg1819417
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2899n54
Supporting Variantsnssv803050, nssv803049
Samples
Known GenesFBXO21
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560347
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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