A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4246635



Internal ID20441914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4023651..4025132hg38UCSC Ensembl
chr16:4073652..4075133hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381482
hg191482
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15954692
Samples
Known GenesADCY9
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)nsv4246635
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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