A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009258



Internal ID18751789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68394343..68569882hg38UCSC Ensembl
Innerchr4:69260061..69435600hg19UCSC Ensembl
Innerchr4:68942656..69118195hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38175540
hg19175540
hg18175540
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5243n100
Supporting Variantsnssv3626809
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)nsv1009258
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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