A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4199783



Internal ID20062331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:75826127..75830509hg38UCSC Ensembl
chr11:75537172..75541554hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg384383
hg194383
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15804637
Samples
Known GenesUVRAG
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)nsv4199783
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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