A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4231740



Internal ID20431920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:25511492..25516177hg38UCSC Ensembl
chr13:26085630..26090315hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg384686
hg194686
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15815468
Samples
Known GenesATP8A2
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)nsv4231740
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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