A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588330



Internal ID16029053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21960091..22219245hg38UCSC Ensembl
Innerchr22:22314463..22573637hg19UCSC Ensembl
Innerchr22:20644463..20903637hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38259155
hg19259175
hg18259175
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7997n54
Supporting Variantsnssv1151469, nssv1151470, nssv1151468
SamplesHGDP01211, HGDP00674, HGDP00954
Known GenesTOP3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588330
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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