A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15852041



Internal ID19863532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:49388202..49793897hg38UCSC Ensembl
chr1:49853874..50259569hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38405696
hg19405696
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4049489
Supporting Variants
Samples
Known GenesAGBL4
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)nssv15852041
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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