A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15864176



Internal ID19936116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41156722..41156811hg38UCSC Ensembl
chr22:41552726..41552815hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4288475
Supporting Variants
Samples
Known GenesEP300
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)nssv15864176
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00106


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