A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16091350



Internal ID19816608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:38861064..38876646hg38UCSC Ensembl
chr5:38861166..38876748hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3815583
hg1915583
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4313378
Supporting Variants
Samples
Known GenesOSMR
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)nssv16091350
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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