A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588006



Internal ID16375415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:15479576..15927765hg38UCSC Ensembl
Innerchr22:16050252..16498387hg19UCSC Ensembl
Innerchr22:14430252..14878387hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38448190
hg19448136
hg18448136
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7934n54
Supporting Variantsnssv949424, nssv949423
Samples
Known GenesBMS1P17, BMS1P18, OR11H1, POTEH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588006
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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