A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15797344



Internal ID19869430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:98445803..98446182hg38UCSC Ensembl
chr10:100205560..100205939hg19UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg38380
hg19380
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4173665
Supporting Variants
Samples
Known GenesHPS1
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)nssv15797344
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000513


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