A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033970



Internal ID19123192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50159790..50300040hg38UCSC Ensembl
Innerchr5:49455624..49595874hg19UCSC Ensembl
Innerchr5:49491381..49631631hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg38140251
hg19140251
hg18140251
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5663n100
Supporting Variantsnssv3642114
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)nsv1033970
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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