A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15886055



Internal ID19957995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:149550689..149552359hg38UCSC Ensembl
chr3:149268476..149270146hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg381671
hg191671
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4521308
Supporting Variants
Samples
Known GenesWWTR1
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)nssv15886055
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.165622


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