A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000946



Internal ID18743477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68394343..68623605hg38UCSC Ensembl
Innerchr4:69260061..69489323hg19UCSC Ensembl
Innerchr4:68942656..69171918hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38229263
hg19229263
hg18229263
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5243n100
Supporting Variantsnssv3626818, nssv3626816, nssv3626817
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)nsv1000946
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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