A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15887540



Internal ID19959480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:195034176..195034846hg38UCSC Ensembl
chr3:194754905..194755575hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38671
hg19671
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4092579
Supporting Variants
Samples
Known Genes
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)nssv15887540
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.006499


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