A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15964923



Internal ID19690180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57550924..58372190hg38UCSC Ensembl
chr20:56125980..56947246hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg38821267
hg19821267
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4277958
Supporting Variants
Samples
Known GenesC20orf85, MIR4532, PCK1, PMEPA1, PPP4R1L, RAB22A, ZBP1
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)nssv15964923
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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