A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16064547



Internal ID19789801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139371248..139371249hg38UCSC Ensembl
chr5:138706937..138706938hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38229
hg19229
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4568760
Supporting Variants
Samples
Known GenesSLC23A1
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)nssv16064547
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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