A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003972



Internal ID19093189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68478882..68623605hg38UCSC Ensembl
Innerchr4:69344600..69489323hg19UCSC Ensembl
Innerchr4:69027195..69171918hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38144724
hg19144724
hg18144724
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5250n100
Supporting Variantsnssv3627075, nssv3627073, nssv3627074, nssv3627076
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)nsv1003972
Frequency
Sample Size11257
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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