A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15957163



Internal ID19682417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:8382470..8746540hg38UCSC Ensembl
chr16:8432472..8840397hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38364071
hg19407926
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4240776
Supporting Variants
Samples
Known GenesABAT, METTL22, TMEM114
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)nssv15957163
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