A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588005



Internal ID16028728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:15542992..15927765hg38UCSC Ensembl
Innerchr22:16050252..16434971hg19UCSC Ensembl
Innerchr22:14430252..14814971hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38384774
hg19384720
hg18384720
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7934n54
Supporting Variantsnssv949422, nssv949421
Samples
Known GenesBMS1P17, BMS1P18, POTEH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588005
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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