A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588340



Internal ID16029063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21975375..22178249hg38UCSC Ensembl
Innerchr22:22329747..22532639hg19UCSC Ensembl
Innerchr22:20659747..20862639hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38202875
hg19202893
hg18202893
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7999n54
Supporting Variantsnssv952004
Samples
Known GenesTOP3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588340
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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