A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16060267



Internal ID20132223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1815756..1815757hg38UCSC Ensembl
chr5:1815870..1815871hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4477662
Supporting Variants
Samples
Known GenesNDUFS6
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)nssv16060267
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001661


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