A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013744



Internal ID19102963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68548042..68655679hg38UCSC Ensembl
Innerchr4:69413760..69521397hg19UCSC Ensembl
Innerchr4:69096355..69203992hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38107638
hg19107638
hg18107638
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5279n100
Supporting Variantsnssv3630888
Samples
Known GenesUGT2B15, UGT2B17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013744
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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