A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588088



Internal ID16375497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17290274..17293630hg38UCSC Ensembl
Innerchr22:17771164..17774520hg19UCSC Ensembl
Innerchr22:16151164..16154520hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg383357
hg193357
hg183357
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7949n54
Supporting Variantsnssv949739, nssv949740
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588088
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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