A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008787



Internal ID19098005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68418861..68563992hg38UCSC Ensembl
Innerchr4:69284579..69429710hg19UCSC Ensembl
Innerchr4:68967174..69112305hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38145132
hg19145132
hg18145132
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5246n100
Supporting Variantsnssv3626831
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)nsv1008787
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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