A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588059



Internal ID16375468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16378502..16406989hg38UCSC Ensembl
Innerchr22:16859164..16887715hg19UCSC Ensembl
Innerchr22:15239164..15267715hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg3828488
hg1928552
hg1828552
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv949491
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588059
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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