A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16047869



Internal ID20119825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:115696852..115696853hg38UCSC Ensembl
chr3:115415699..115415700hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg38284
hg19284
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4551277
Supporting Variants
Samples
Known GenesGAP43
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)nssv16047869
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00383


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