A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4081684



Internal ID20323490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:160416180..160435905hg38UCSC Ensembl
chr2:161272691..161292416hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3819726
hg1919726
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15970159
Samples
Known GenesRBMS1
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)nsv4081684
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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