A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16013560



Internal ID20085516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:100637955..100637956hg38UCSC Ensembl
chr15:101178160..101178161hg19UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4548184
Supporting Variants
Samples
Known GenesASB7
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)nssv16013560
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.021862


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