A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063292



Internal ID19152511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:45715129..45737040hg38UCSC Ensembl
Innerchr18:43295094..43317005hg19UCSC Ensembl
Innerchr18:41549092..41571003hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3821912
hg1921912
hg1821912
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3565373
Samples
Known GenesSLC14A1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063292
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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