A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011834



Internal ID19101052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68439209..68620249hg38UCSC Ensembl
Innerchr4:69304927..69485967hg19UCSC Ensembl
Innerchr4:68987522..69168562hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38181041
hg19181041
hg18181041
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5249n100
Supporting Variantsnssv3627041
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)nsv1011834
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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