A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15838073



Internal ID19910159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:11687412..11689731hg38UCSC Ensembl
chr18:11687411..11689730hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg382320
hg192320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4252750
Supporting Variants
Samples
Known GenesGNAL
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)nssv15838073
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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