A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15861053



Internal ID19586307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:44355984..44356096hg38UCSC Ensembl
chr20:42984624..42984736hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4280080
Supporting Variants
Samples
Known GenesHNF4A
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)nssv15861053
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.003827


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