A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4195164



Internal ID20058986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:35961802..35965085hg38UCSC Ensembl
chr11:35983352..35986635hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg383284
hg193284
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15799661
Samples
Known GenesLDLRAD3
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)nsv4195164
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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