A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15797372



Internal ID19869458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:99112578..99115445hg38UCSC Ensembl
chr10:100872335..100875202hg19UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg382868
hg192868
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4182976
Supporting Variants
Samples
Known GenesHPSE2
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)nssv15797372
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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