A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16016034



Internal ID19741288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:50726245..50726246hg38UCSC Ensembl
chr16:50760156..50760157hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4547272
Supporting Variants
Samples
Known GenesNOD2
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)nssv16016034
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.01952


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