A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589090



Internal ID16029813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:43278243..43284233hg38UCSC Ensembl
Innerchr22:43674249..43680239hg19UCSC Ensembl
Innerchr22:42004193..42010183hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg385991
hg195991
hg185991
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv957175
Samples
Known GenesSCUBE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589090
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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