A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv957183



Internal ID16251139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:43280878..43284233hg38UCSC Ensembl
Innerchr22:43676884..43680239hg19UCSC Ensembl
Innerchr22:42006828..42010183hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg383356
hg193356
hg183356
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv589097
Supporting Variants
Samples
Known GenesSCUBE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv957183
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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