A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15804635



Internal ID19530035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:75770092..75771215hg38UCSC Ensembl
chr11:75481137..75482260hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg381124
hg191124
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4211969
Supporting Variants
Samples
Known GenesDGAT2
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)nssv15804635
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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