A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15848036



Internal ID19573402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226886338..226889193hg38UCSC Ensembl
chr1:227074039..227076894hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg382856
hg192856
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4063983
Supporting Variants
Samples
Known GenesPSEN2
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 ID12345678
Accession Number(s)nssv15848036
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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