A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15828973



Internal ID19901059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:3464220..3473183hg38UCSC Ensembl
chr16:3514220..3523183hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg388964
hg198964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4247865
Supporting Variants
Samples
Known GenesNAA60
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)nssv15828973
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00005


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