A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16009621



Internal ID19734875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:55388783..55388784hg38UCSC Ensembl
chr14:55855501..55855502hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4505006
Supporting Variants
Samples
Known GenesATG14
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)nssv16009621
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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