A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4050418



Internal ID20176059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:71876480..71899149hg38UCSC Ensembl
chr1:72342163..72364832hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3822670
hg1922670
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15851785
Samples
Known GenesNEGR1
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)nsv4050418
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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