A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15961910



Internal ID19687164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:53482861..53609212hg38UCSC Ensembl
chr19:53986115..54112466hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38126352
hg19126352
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4258117
Supporting Variants
Samples
Known GenesLOC284379, ZNF331, ZNF813
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)nssv15961910
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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