A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16062529



Internal ID19787783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77041781..77041782hg38UCSC Ensembl
chr5:76337606..76337607hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4566489
Supporting Variants
Samples
Known GenesAGGF1
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)nssv16062529
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