A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222980



Internal ID22366880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45080254..45080835hg38UCSC Ensembl
chr22:45476135..45476716hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38582
hg19582
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14304456, nssv14304454, nssv14304452, nssv14304455, nssv14304457, nssv14304453
SamplesHG00512, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222980
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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