A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15998580



Internal ID20070536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:128548132..128548133hg38UCSC Ensembl
chr11:128418027..128418028hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4549427
Supporting Variants
Samples
Known GenesETS1
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)nssv15998580
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.165326


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