A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216513



Internal ID22362485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36126529..36126747hg38UCSC Ensembl
chr22:36522577..36522795hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38219
hg19219
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14305630
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216513
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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