A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15962531



Internal ID19687785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54112639..54128406hg38UCSC Ensembl
chr1:54578312..54594079hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3815768
hg1915768
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4050349
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 ID12345678
Accession Number(s)nssv15962531
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000691


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