A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001663



Internal ID18744194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68450721..68592208hg38UCSC Ensembl
Innerchr4:69316439..69457926hg19UCSC Ensembl
Innerchr4:68999034..69140521hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38141488
hg19141488
hg18141488
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5253n100
Supporting Variantsnssv3627049, nssv3627050
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)nsv1001663
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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