A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15859089



Internal ID19931029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:47723296..47724980hg38UCSC Ensembl
chr20:46352040..46353724hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg381685
hg191685
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4274209
Supporting Variants
Samples
Known GenesSULF2
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)nssv15859089
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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