A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4115115



Internal ID20348178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:82303387..82318904hg38UCSC Ensembl
chr5:81599206..81614723hg19UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg3815518
hg1915518
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15977422
Samples
Known GenesATP6AP1L
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)nsv4115115
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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