A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16032827



Internal ID19758081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49909550..49909551hg38UCSC Ensembl
chr20:48526087..48526088hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4570437
Supporting Variants
Samples
Known GenesSPATA2
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)nssv16032827
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.008266


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