A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4564288



Internal ID20294177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:182662016..182662017hg38UCSC Ensembl
chr1:182631151..182631152hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg381303
hg191303
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16026761
Samples
Known GenesRGS8
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)nsv4564288
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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