A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15797038



Internal ID19869124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:92556837..92561115hg38UCSC Ensembl
chr10:94316594..94320872hg19UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg384279
hg194279
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4179995
Supporting Variants
Samples
Known GenesIDE
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)nssv15797038
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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