A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511249



Internal ID15503988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68523870..68624885hg38UCSC Ensembl
Outerchr4:68522660..68631558hg38UCSC Ensembl
Innerchr4:69389588..69490603hg19UCSC Ensembl
Outerchr4:69388378..69497276hg19UCSC Ensembl
Innerchr4:69072183..69173198hg18UCSC Ensembl
Outerchr4:69070973..69179871hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38108899
hg19108899
hg18108899
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624666
Samples1
Known GenesUGT2B17
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511249
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