A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588345



Internal ID16029068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21982115..22208677hg38UCSC Ensembl
Innerchr22:22336512..22563068hg19UCSC Ensembl
Innerchr22:20666512..20893068hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38226563
hg19226557
hg18226557
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7997n54
Supporting Variantsnssv1151476
SamplesNINDS_202
Known GenesTOP3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588345
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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