A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15791441



Internal ID19516831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100579641..100580183hg38UCSC Ensembl
chr8:101591869..101592411hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg38543
hg19543
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4557880
Supporting Variants
Samples
Known GenesSNX31
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 ID12345678
Accession Number(s)nssv15791441
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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