A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043473



Internal ID19132692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:47511391..47545825hg38UCSC Ensembl
Innerchr13:48085526..48119960hg19UCSC Ensembl
Innerchr13:46983527..47017961hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3834435
hg1934435
hg1834435
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1646n100
Supporting Variantsnssv3523434, nssv3523435
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043473
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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