A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16069315



Internal ID20141271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:91679325..91679326hg38UCSC Ensembl
chr6:92389043..92389044hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4542389
Supporting Variants
Samples
Known GenesCASC6
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)nssv16069315
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.068016


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