A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15846459



Internal ID19918536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47496777..47498552hg38UCSC Ensembl
chr19:48000034..48001809hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg381776
hg191776
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4257254
Supporting Variants
Samples
Known GenesNAPA, NAPA-AS1
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)nssv15846459
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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