A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3724534



Internal ID18676129
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 StatusS
Merged Variantsnsv1065803
Supporting Variants
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)nssv3724534
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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