A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4058070



Internal ID20181531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149779444..149821445hg38UCSC Ensembl
chr1:149751000..149793000hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3842002
hg1942001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15963285
Samples
Known GenesFCGR1A, HIST2H2BF, HIST2H3D
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)nsv4058070
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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