A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588780



Internal ID16029503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25265758..25513844hg38UCSC Ensembl
Innerchr22:25661725..25909811hg19UCSC Ensembl
Innerchr22:23991725..24239811hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38248087
hg19248087
hg18248087
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8071n54
Supporting Variantsnssv1151645, nssv954378, nssv1151644, nssv954377, nssv1151646
Samples1782681169_A, NINDS_210, 1780862160_A
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)nsv588780
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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