A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588993



Internal ID16376402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:37352354..37353798hg38UCSC Ensembl
Innerchr22:37748394..37749838hg19UCSC Ensembl
Innerchr22:36078340..36079784hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg381445
hg191445
hg181445
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8101n54
Supporting Variantsnssv956668, nssv956669, nssv956667
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588993
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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