A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4531173



Internal ID20261292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:70255096..70320097hg38UCSC Ensembl
chr16:70288999..70354000hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3865002
hg1965002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15955001
Samples
Known GenesAARS, DDX19B, LOC100506083
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)nsv4531173
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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