A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15798348



Internal ID19870434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133366705..133366778hg38UCSC Ensembl
chr10:135180209..135180282hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4202139
Supporting Variants
Samples
Known GenesECHS1
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)nssv15798348
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.042996


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