A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16011450



Internal ID20083406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:70684163..70684164hg38UCSC Ensembl
chr15:70976502..70976503hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38157
hg19157
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4505331
Supporting Variants
Samples
Known GenesUACA
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)nssv16011450
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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