A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067417



Internal ID18809948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:47103045..47309908hg38UCSC Ensembl
Innerchr19:47606302..47813165hg19UCSC Ensembl
Innerchr19:52298142..52505005hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38206864
hg19206864
hg18206864
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3573806
Samples
Known GenesBBC3, C5AR1, CCDC9, MIR3190, MIR3191, PRR24, SAE1, ZC3H4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1067417
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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