A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15863578



Internal ID19588832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:40446587..40449127hg38UCSC Ensembl
chr22:40842591..40845131hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg382541
hg192541
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4279256
Supporting Variants
Samples
Known GenesMKL1
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)nssv15863578
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00023


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer