A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15798698



Internal ID19870784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:118321860..118325315hg38UCSC Ensembl
chr10:120081372..120084827hg19UCSC Ensembl
Cytoband10q26.11
Allele length
AssemblyAllele length
hg383456
hg193456
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4178342
Supporting Variants
Samples
Known GenesFAM204A
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)nssv15798698
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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