A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15951422



Internal ID19676676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:69194754..69194824hg38UCSC Ensembl
chr10:70954510..70954580hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4528649
Supporting Variants
Samples
Known GenesSUPV3L1
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)nssv15951422
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.01426


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