A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16017433



Internal ID19742687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49617592..49617593hg38UCSC Ensembl
chr17:47694954..47694955hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38369
hg19369
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4576365
Supporting Variants
Samples
Known GenesSPOP
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)nssv16017433
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000138


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