A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4073756



Internal ID20317646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:29516912..29528067hg38UCSC Ensembl
chr3:29558403..29569558hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg3811156
hg1911156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1625n166
Supporting Variantsnssv15880146
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)nsv4073756
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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