A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518406



Internal ID15099013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:54496134..54534192hg38UCSC Ensembl
Innerchr2:54723271..54761329hg19UCSC Ensembl
Innerchr2:54576775..54614833hg18UCSC Ensembl
Innerchr2:54634922..54672980hg17UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3838059
hg1938059
hg1838059
hg1738059
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695837
Samples
Known GenesRPL23AP32, SPTBN1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518406
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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