A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16023440



Internal ID19748694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55174183..55174184hg38UCSC Ensembl
chr19:55685551..55685552hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4545141
Supporting Variants
Samples
Known GenesSYT5
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)nssv16023440
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000139


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