A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588647



Internal ID16029370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23824214..23906574hg38UCSC Ensembl
Innerchr22:24166401..24248761hg19UCSC Ensembl
Innerchr22:22496401..22578761hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3882361
hg1982361
hg1882361
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv952807
Samples
Known GenesDERL3, LOC284889, MIF, SLC2A11, SMARCB1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588647
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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