A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4273740



Internal ID20113661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38985895..39044995hg38UCSC Ensembl
chr22:39381900..39441000hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3859101
hg1959101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15863507
Samples
Known GenesAPOBEC3A_B, APOBEC3B, APOBEC3B-AS1, APOBEC3C, APOBEC3D, APOBEC3F
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 ID12345678
Accession Number(s)nsv4273740
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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