A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15792859



Internal ID19864942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:20121266..20125578hg38UCSC Ensembl
chr10:20410195..20414507hg19UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg384313
hg194313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4181046
Supporting Variants
Samples
Known GenesPLXDC2
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)nssv15792859
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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