A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16091121



Internal ID20163068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:21647266..22062458hg38UCSC Ensembl
chr19:21830068..22245260hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38415193
hg19415193
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4564118
Supporting Variants
Samples
Known GenesLOC641367, ZNF100, ZNF208, ZNF257, ZNF43
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)nssv16091121
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.004379


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