A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15840999



Internal ID19913085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:75282428..75282946hg38UCSC Ensembl
chr18:72994383..72994901hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38519
hg19519
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4258706
Supporting Variants
Samples
Known GenesTSHZ1
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)nssv15840999
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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