A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16046531



Internal ID20118487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100394521..100394522hg38UCSC Ensembl
chr3:100113365..100113366hg19UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38376
hg19376
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4573371
Supporting Variants
Samples
Known GenesTOMM70A
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)nssv16046531
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