A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15970654



Internal ID20042594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:75095849..75121849hg38UCSC Ensembl
chr3:75145000..75171000hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg3826001
hg1926001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4088288
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)nssv15970654
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000093


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