A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16009122



Internal ID20081078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:51252268..51252269hg38UCSC Ensembl
chr14:51718986..51718987hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4502537
Supporting Variants
Samples
Known GenesTMX1
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)nssv16009122
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.51094


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