A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15790692



Internal ID19862756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:169775476..169776292hg38UCSC Ensembl
chr5:169202480..169203296hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38817
hg19817
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4333009
Supporting Variants
Samples
Known GenesDOCK2
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nssv15790692
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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