A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4259762



Internal ID20450929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:13675082..13676162hg38UCSC Ensembl
chr18:13675081..13676161hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg381081
hg191081
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15959671
Samples
Known GenesFAM210A
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)nsv4259762
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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