A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518686



Internal ID15445979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:51842991..51844792hg38UCSC Ensembl
Innerchr20:50459530..50461331hg19UCSC Ensembl
Innerchr20:49892937..49894738hg18UCSC Ensembl
Innerchr20:49892937..49894738hg17UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg381802
hg191802
hg181802
hg171802
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696139
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518686
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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