A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4222994



Internal ID20425673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112800108..112802343hg38UCSC Ensembl
chr13:113454422..113456657hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg382236
hg192236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15819535
Samples
Known GenesATP11A
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)nsv4222994
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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