A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066138



Internal ID18808669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:38413432..38459089hg38UCSC Ensembl
Innerchr19:38904072..38949729hg19UCSC Ensembl
Innerchr19:43595912..43641569hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3845658
hg1945658
hg1845658
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3525n100
Supporting Variantsnssv3568198
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)nsv1066138
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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