A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15787602



Internal ID19859628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:84257538..84261447hg38UCSC Ensembl
chr11:83968581..83972490hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg383910
hg193910
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4344681
Supporting Variants
Samples
Known GenesDLG2
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)nssv15787602
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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