A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16023049



Internal ID20095005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:34213168..34213169hg38UCSC Ensembl
chr19:34704073..34704074hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4541300
Supporting Variants
Samples
Known GenesLSM14A
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)nssv16023049
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.036047


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