A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212678



Internal ID22359852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:39029834..39049926hg38UCSC Ensembl
chr22:39425839..39445931hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3820093
hg1920093
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14303574, nssv14303575, nssv14303573, nssv14303572, nssv14303571, nssv14303576
SamplesHG00512, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesAPOBEC3D, APOBEC3F
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212678
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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