A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005150



Internal ID19094367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68478882..68639385hg38UCSC Ensembl
Innerchr4:69344600..69505103hg19UCSC Ensembl
Innerchr4:69027195..69187698hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38160504
hg19160504
hg18160504
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5253n100
Supporting Variantsnssv3627077, nssv3740258, nssv3627078
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)nsv1005150
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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