A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15886748



Internal ID19958688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:185876575..185880059hg38UCSC Ensembl
chr3:185594363..185597847hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg383485
hg193485
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4112180
Supporting Variants
Samples
Known Genes
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)nssv15886748
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001014


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