A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4232467



Internal ID20432457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:25758825..25766674hg38UCSC Ensembl
chr15:26003972..26011821hg19UCSC Ensembl
Cytoband15q12
Allele length
AssemblyAllele length
hg387850
hg197850
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv775n166
Supporting Variantsnssv15824513
Samples
Known GenesATP10A
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)nsv4232467
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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