A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15962726



Internal ID19687980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:157524462..157527831hg38UCSC Ensembl
chr1:157494252..157497621hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg383370
hg193370
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4071321
Supporting Variants
Samples
Known GenesFCRL5
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)nssv15962726
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000184


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