A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013369



Internal ID18755900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68509211..68615207hg38UCSC Ensembl
Innerchr4:69374929..69480925hg19UCSC Ensembl
Innerchr4:69057524..69163520hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38105997
hg19105997
hg18105997
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5261n100
Supporting Variantsnssv3743422, nssv3627756
Samples
Known GenesUGT2B17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013369
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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