A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15803742



Internal ID19529142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:68708831..68716070hg38UCSC Ensembl
chr11:68476299..68483538hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg387240
hg197240
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4194159
Supporting Variants
Samples
Known GenesMTL5
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)nssv15803742
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000138


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