A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1151656



Internal ID15854403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25265758..25514700hg38UCSC Ensembl
Innerchr22:25661725..25910667hg19UCSC Ensembl
Innerchr22:23991725..24240667hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38248943
hg19248943
hg18248943
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv588782
Supporting Variants
Samples1780862101_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)nssv1151656
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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