A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4064437



Internal ID19964197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152799524..152892524hg38UCSC Ensembl
chr1:152772000..152865000hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3893001
hg1993001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15963337
Samples
Known GenesLCE1A, LCE1B, LCE1C, LCE6A, SMCP
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)nsv4064437
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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