A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511572



Internal ID15504311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28368122..28415283hg38UCSC Ensembl
Outerchr16:28326942..28473235hg38UCSC Ensembl
Innerchr16:28379443..28426604hg19UCSC Ensembl
Outerchr16:28338263..28484556hg19UCSC Ensembl
Innerchr16:28286944..28334105hg18UCSC Ensembl
Outerchr16:28245764..28392057hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38146294
hg19146294
hg18146294
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626198
Samples1
Known GenesCLN3, EIF3C, EIF3CL, MIR6862-1, MIR6862-2, NPIPB6
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511572
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