A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15884544



Internal ID19956484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:134886074..134892997hg38UCSC Ensembl
chr3:134604916..134611839hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg386924
hg196924
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4105382
Supporting Variants
Samples
Known GenesEPHB1
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)nssv15884544
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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