A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15789581



Internal ID19861632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110101051..110101052hg38UCSC Ensembl
chr2:110858628..110858629hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg382
hg192
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4558930
Supporting Variants
Samples
Known GenesMALL
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 ID32461652
Accession Number(s)nssv15789581
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.001752


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