A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15974153



Internal ID20046093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:53460477..53471753hg38UCSC Ensembl
chr4:54326644..54337920hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3811277
hg1911277
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4098661
Supporting Variants
Samples
Known GenesLNX1
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 ID32461652
Accession Number(s)nssv15974153
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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