A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588829



Internal ID16376238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25303640..25514700hg38UCSC Ensembl
Innerchr22:25699607..25910667hg19UCSC Ensembl
Innerchr22:24029607..24240667hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38211061
hg19211061
hg18211061
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8075n54
Supporting Variantsnssv1151721
Samples1798860565_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)nsv588829
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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