A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16012838



Internal ID20084794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:89200387..89200388hg38UCSC Ensembl
chr15:89743618..89743619hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4538194
Supporting Variants
Samples
Known GenesABHD2
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)nssv16012838
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.007711


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