A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4129204



Internal ID20011401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:74697748..74779149hg38UCSC Ensembl
chr5:73993573..74074974hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3881402
hg1981402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15976925
Samples
Known GenesFAM169A, GFM2, HEXB, NSA2
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)nsv4129204
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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