A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15845480



Internal ID19917566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50512124..50513013hg38UCSC Ensembl
chr19:51015381..51016270hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38890
hg19890
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4534372
Supporting Variants
Samples
Known GenesASPDH
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)nssv15845480
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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