A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15985143



Internal ID20057084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:74544243..74554149hg38UCSC Ensembl
chr8:75456478..75466384hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg389907
hg199907
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4153757
Supporting Variants
Samples
Known GenesMIR5681A, MIR5681B
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)nssv15985143
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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