A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16032748



Internal ID19758002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:44477257..44477258hg38UCSC Ensembl
chr20:43105897..43105898hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38387
hg19387
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4575718
Supporting Variants
Samples
Known GenesTTPAL
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)nssv16032748
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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