A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15802013



Internal ID19527413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:66552416..66562727hg38UCSC Ensembl
chr11:66319887..66330198hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg3810312
hg1910312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4204798
Supporting Variants
Samples
Known GenesACTN3
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 ID12345678
Accession Number(s)nssv15802013
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000876


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