A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588758



Internal ID16029481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25227356..25513288hg38UCSC Ensembl
Innerchr22:25623323..25909255hg19UCSC Ensembl
Innerchr22:23953323..24239255hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38285933
hg19285933
hg18285933
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8071n54
Supporting Variantsnssv1151621
SamplesHGDP01290
Known GenesCRYBB2, CRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588758
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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