A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4522408



Internal ID20252527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78871176..78951677hg38UCSC Ensembl
chr5:78166999..78247500hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3880502
hg1980502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15977368
Samples
Known GenesARSB
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)nsv4522408
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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