A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15963974



Internal ID19689228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:44585881..44586095hg38UCSC Ensembl
chr20:43214522..43214736hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38215
hg19215
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4534592
Supporting Variants
Samples
Known GenesPKIG
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)nssv15963974
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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