A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16067107



Internal ID20139063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:168718163..168718164hg38UCSC Ensembl
chr5:168145168..168145169hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4543829
Supporting Variants
Samples
Known GenesSLIT3
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)nssv16067107
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.095303


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