A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588823



Internal ID16376232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25291547..25514700hg38UCSC Ensembl
Innerchr22:25687514..25910667hg19UCSC Ensembl
Innerchr22:24017514..24240667hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38223154
hg19223154
hg18223154
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8073n54
Supporting Variantsnssv1151715, nssv1151716, nssv954467, nssv1151714, nssv1151717, nssv954468
SamplesHGDP00545, HGDP00141, HGDP00526, 1780854530_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)nsv588823
Frequency
Sample Size17421
Observed Gain3
Observed Loss3
Observed Complex0
Frequencyn/a


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