A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15957434



Internal ID19682688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:48321924..48347244hg38UCSC Ensembl
chr15:48614121..48639441hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg3825321
hg1925321
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4243151
Supporting Variants
Samples
Known GenesDUT
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)nssv15957434
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000277


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