A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4319065



Internal ID19838195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:70633714..72604175hg38UCSC Ensembl
chr13:71207846..73178313hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg381970462
hg191970468
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16090827
Samples
Known GenesDACH1, LINC00348
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)nsv4319065
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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