A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589054



Internal ID16376463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42313328..42322526hg38UCSC Ensembl
Innerchr22:42709334..42718532hg19UCSC Ensembl
Innerchr22:41039278..41048476hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg389199
hg199199
hg189199
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8112n54
Supporting Variantsnssv957092
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589054
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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