A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15858806



Internal ID19930746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:10161390..10163431hg38UCSC Ensembl
chr20:10142038..10144079hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg382042
hg192042
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4273936
Supporting Variants
Samples
Known GenesSNAP25-AS1
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)nssv15858806
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001337


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