A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16090114



Internal ID20162070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:37570939..37571002hg38UCSC Ensembl
chr19:38061841..38061904hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4325749
Supporting Variants
Samples
Known GenesZNF540, ZNF571, ZNF571-AS1
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)nssv16090114
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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