A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15995848



Internal ID20067804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133367261..133367262hg38UCSC Ensembl
chr10:135180765..135180766hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4488719
Supporting Variants
Samples
Known GenesECHS1
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)nssv15995848
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001614


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