A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065803



Internal ID18808334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:38412459..38455211hg38UCSC Ensembl
Innerchr19:38903099..38945851hg19UCSC Ensembl
Innerchr19:43594939..43637691hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3842753
hg1942753
hg1842753
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3525n100
Supporting Variantsnssv3724534
Samples
Known GenesRASGRP4, RYR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065803
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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