A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16009315



Internal ID20081271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:103496875..103496876hg38UCSC Ensembl
chr14:103963212..103963213hg19UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg38423
hg19423
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4565423
Supporting Variants
Samples
Known GenesMARK3
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)nssv16009315
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002078


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