A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059424



Internal ID18801955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:44891441..44923319hg38UCSC Ensembl
Innerchr18:42471406..42503284hg19UCSC Ensembl
Innerchr18:40725404..40757282hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3831879
hg1931879
hg1831879
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3565371
Samples
Known GenesSETBP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059424
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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