A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15813781



Internal ID19539181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30727288..30727381hg38UCSC Ensembl
chr13:31301425..31301518hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4212927
Supporting Variants
Samples
Known GenesALOX5AP
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)nssv15813781
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001798


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