A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15995381



Internal ID19720635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:75004346..75004347hg38UCSC Ensembl
chr11:74715391..74715392hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg381817
hg191817
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4569670
Supporting Variants
Samples
Known GenesNEU3
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)nssv15995381
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000876


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