A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15875353



Internal ID19600607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197733976..197741376hg38UCSC Ensembl
chr2:198598700..198606100hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg387401
hg197401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4091871
Supporting Variants
Samples
Known GenesBOLL
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)nssv15875353
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001174


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