A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15790754



Internal ID19516133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:26396056..26458239hg38UCSC Ensembl
chr6:26396284..26458467hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg3862184
hg1962184
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4341825
Supporting Variants
Samples
Known GenesBTN2A1, BTN2A3P, BTN3A1, BTN3A3
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nssv15790754
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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