A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012154



Internal ID19101372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68418861..68581958hg38UCSC Ensembl
Innerchr4:69284579..69447676hg19UCSC Ensembl
Innerchr4:68967174..69130271hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38163098
hg19163098
hg18163098
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5246n100
Supporting Variantsnssv3626834
Samples
Known GenesTMPRSS11E, UGT2B17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012154
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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