A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588335



Internal ID16029058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21960940..22217462hg38UCSC Ensembl
Innerchr22:22315312..22571854hg19UCSC Ensembl
Innerchr22:20645312..20901854hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38256523
hg19256543
hg18256543
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7997n54
Supporting Variantsnssv951988, nssv951987
Samples
Known GenesTOP3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588335
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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