A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588826



Internal ID16376235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25291601..25528477hg38UCSC Ensembl
Innerchr22:25687568..25924444hg19UCSC Ensembl
Innerchr22:24017568..24254444hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38236877
hg19236877
hg18236877
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8073n54
Supporting Variantsnssv954477, nssv954498, nssv954493, nssv954471, nssv954504, nssv954499, nssv954470, nssv954497, nssv954506, nssv954478, nssv954500, nssv954503, nssv954482, nssv954472, nssv954469, nssv954512, nssv954473, nssv954492, nssv954508, nssv954494, nssv954490, nssv954488, nssv954487, nssv954476, nssv954489, nssv954484, nssv954495, nssv954502, nssv954507, nssv954485, nssv954505, nssv954491, nssv954474, nssv954475, nssv954483, nssv954486, nssv954479, nssv954501, nssv954480, nssv954511, nssv954509, nssv954510, nssv954481, nssv954496
Samples
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588826
Frequency
Sample Size17421
Observed Gain30
Observed Loss14
Observed Complex0
Frequencyn/a


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