A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4089721



Internal ID20329363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:29515348..29525194hg38UCSC Ensembl
chr3:29556839..29566685hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg389847
hg199847
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1625n166
Supporting Variantsnssv15880145
Samples
Known GenesRBMS3
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)nsv4089721
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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