A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4193755



Internal ID20404643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:85057834..85066770hg38UCSC Ensembl
chr11:84768878..84777814hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg388937
hg198937
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15802828
Samples
Known GenesDLG2
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 ID32461652
Accession Number(s)nsv4193755
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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