A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16054807



Internal ID20126763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:82896746..82896747hg38UCSC Ensembl
chr4:83817899..83817900hg19UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4565548
Supporting Variants
Samples
Known GenesTHAP9-AS1
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)nssv16054807
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer