A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519019



Internal ID15446312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:41195981..41200417hg38UCSC Ensembl
Innerchr21:42567908..42572344hg19UCSC Ensembl
Innerchr21:41489778..41494214hg18UCSC Ensembl
Innerchr21:41489778..41494214hg17UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg384437
hg194437
hg184437
hg174437
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696490
Samples
Known GenesBACE2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519019
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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