A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4126596



Internal ID20356228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:114903743..115027538hg38UCSC Ensembl
chr5:114239440..114363235hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg38123796
hg19123796
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2047n166
Supporting Variantsnssv15904642
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)nsv4126596
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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