A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16032475



Internal ID20104431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:42213265..42213266hg38UCSC Ensembl
chr20:40841905..40841906hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38380
hg19380
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4566213
Supporting Variants
Samples
Known GenesPTPRT
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)nssv16032475
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.229319


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