A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517186



Internal ID15097793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:150950321..150962138hg38UCSC Ensembl
Innerchr4:151871473..151883290hg19UCSC Ensembl
Innerchr4:152090923..152102740hg18UCSC Ensembl
Innerchr4:152229078..152240895hg17UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg3811818
hg1911818
hg1811818
hg1711818
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv662056, nssv672324, nssv680919, nssv688935, nssv664339, nssv678820, nssv686557, nssv658827, nssv677427, nssv654084, nssv660341, nssv664990, nssv653959, nssv660792, nssv690713, nssv652205, nssv671477, nssv689292, nssv660277, nssv658192, nssv668834, nssv693817, nssv687873, nssv683056, nssv689316, nssv668053, nssv693962, nssv665458, nssv655311, nssv683958, nssv677135, nssv665673, nssv686168, nssv669870, nssv656595, nssv662543, nssv668883, nssv654732, nssv687247, nssv663582, nssv675351, nssv656408, nssv688774, nssv676270
Samples
Known GenesLRBA
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517186
Frequency
Sample Size2026
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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