A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15790544



Internal ID19862606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:83119090..83133225hg38UCSC Ensembl
chr5:82414909..82429044hg19UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg3814136
hg1914136
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4337829
Supporting Variants
Samples
Known GenesXRCC4
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)nssv15790544
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.001898


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