A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16064511



Internal ID20136467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:159921572..159921573hg38UCSC Ensembl
chr5:159348579..159348580hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38403
hg19403
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4561758
Supporting Variants
Samples
Known GenesADRA1B
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)nssv16064511
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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