A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4119013



Internal ID20350920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:27105076..27109666hg38UCSC Ensembl
chr5:27105183..27109773hg19UCSC Ensembl
Cytoband5p14.1
Allele length
AssemblyAllele length
hg384591
hg194591
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1984n166
Supporting Variantsnssv15900739
Samples
Known Genes
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)nsv4119013
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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