A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588761



Internal ID16029484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25233715..25531749hg38UCSC Ensembl
Innerchr22:25629682..25927716hg19UCSC Ensembl
Innerchr22:23959682..24257716hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38298035
hg19298035
hg18298035
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8071n54
Supporting Variantsnssv954360
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)nsv588761
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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