A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15859848



Internal ID19585102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:56402910..56514974hg38UCSC Ensembl
chr20:54977966..55090030hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38112065
hg19112065
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4291281
Supporting Variants
Samples
Known GenesCASS4, CSTF1, GCNT7, RTFDC1
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)nssv15859848
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000047


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