A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4054224



Internal ID20178770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:56484882..56527372hg38UCSC Ensembl
chr2:56712017..56754507hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3842491
hg1942491
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1269n166
Supporting Variantsnssv15866509
Samples
Known Genes
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)nsv4054224
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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