A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517772



Internal ID15098379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:17379587..17406315hg38UCSC Ensembl
Innerchr11:17401134..17427862hg19UCSC Ensembl
Innerchr11:17357710..17384438hg18UCSC Ensembl
Innerchr11:17357710..17384438hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3826729
hg1926729
hg1826729
hg1726729
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv59n21
Supporting Variantsnssv664546, nssv654945, nssv658489, nssv699474, nssv660169, nssv656876, nssv688439, nssv659066, nssv672615, nssv661826, nssv682166, nssv662462, nssv675304, nssv686830, nssv653184, nssv689087, nssv674157, nssv666067, nssv667559, nssv660119, nssv689060
Samples
Known GenesABCC8, KCNJ11
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517772
Frequency
Sample Size2026
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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