A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15907864



Internal ID19979804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:26428980..26466231hg38UCSC Ensembl
chr6:26429208..26466459hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg3837252
hg1937252
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4123208
Supporting Variants
Samples
Known GenesBTN2A1, BTN2A3P, 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
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nssv15907864
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000281


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