A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15781502



Internal ID19853490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:64297547..64334147hg38UCSC Ensembl
chr20:62928900..62965500hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3836601
hg1936601
Variant TypeOTHER copy number variation
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4050412
Supporting Variants
Samples
Known GenesLINC00266-1
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)nssv15781502
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.383608


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