A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521890



Internal ID15102497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48935106..48952897hg38UCSC Ensembl
Innerchr19:49438363..49456154hg19UCSC Ensembl
Innerchr19:54130175..54147966hg18UCSC Ensembl
Innerchr19:54130175..54147966hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3817792
hg1917792
hg1817792
hg1717792
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694662
Samples
Known GenesDHDH
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521890
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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