A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588085



Internal ID16375494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17289291..17293115hg38UCSC Ensembl
Innerchr22:17770181..17774005hg19UCSC Ensembl
Innerchr22:16150181..16154005hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg383825
hg193825
hg183825
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7949n54
Supporting Variantsnssv949525
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588085
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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