A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15964609



Internal ID19689865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:218428655..220010158hg38UCSC Ensembl
chr1:218601997..220183500hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381581504
hg191581504
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4519645
Supporting Variants
Samples
Known GenesEPRS, LOC643723, LYPLAL1, RNU5F-1, SLC30A10, TGFB2
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)nssv15964609
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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