A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4238767



Internal ID20436682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:28965372..29035848hg38UCSC Ensembl
chr15:29257575..29328051hg19UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg3870477
hg1970477
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15823370
Samples
Known GenesAPBA2
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)nsv4238767
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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