A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4279653



Internal ID20462919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36382797..36384474hg38UCSC Ensembl
chr22:36778842..36780519hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg381678
hg191678
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15863464
Samples
Known GenesMYH9
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4279653
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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