A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521459



Internal ID15102066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:40807297..40827379hg38UCSC Ensembl
Innerchr19:41313202..41333284hg19UCSC Ensembl
Innerchr19:46005042..46025124hg18UCSC Ensembl
Innerchr19:46005042..46025124hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3820083
hg1920083
hg1820083
hg1720083
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698069
Samples
Known GenesEGLN2, RAB4B-EGLN2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521459
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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