A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999186



Internal ID18812036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68422408..68564420hg38UCSC Ensembl
Innerchr4:69288126..69430138hg19UCSC Ensembl
Innerchr4:68970721..69112733hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38142013
hg19142013
hg18142013
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5246n100
Supporting Variantsnssv3626879
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)nsv999186
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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