A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002246



Internal ID19091463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68422408..68569882hg38UCSC Ensembl
Innerchr4:69288126..69435600hg19UCSC Ensembl
Innerchr4:68970721..69118195hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38147475
hg19147475
hg18147475
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5248n100
Supporting Variantsnssv3626880
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)nsv1002246
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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