A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16004474



Internal ID19729728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:31746762..31746763hg38UCSC Ensembl
chr13:32320899..32320900hg19UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4550885
Supporting Variants
Samples
Known GenesRXFP2
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 ID12345678
Accession Number(s)nssv16004474
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.256957


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