A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15957171



Internal ID19682425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:8635160..8831952hg38UCSC Ensembl
chr16:8729017..8925809hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38196793
hg19196793
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4235630
Supporting Variants
Samples
Known GenesABAT, METTL22, PMM2, TMEM186
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)nssv15957171
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000138


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