A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511493



Internal ID15850918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:42651530..42651946hg38UCSC Ensembl
Outerchr12:42651478..42652377hg38UCSC Ensembl
Innerchr12:43045332..43045748hg19UCSC Ensembl
Outerchr12:43045280..43046179hg19UCSC Ensembl
Innerchr12:41331599..41332015hg18UCSC Ensembl
Outerchr12:41331547..41332446hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38900
hg19900
hg18900
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626111
Samples1
Known Genes
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511493
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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