A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4561563



Internal ID20291447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:119545412..119545413hg38UCSC Ensembl
chr4:120466567..120466568hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38206
hg19206
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16056053
Samples
Known GenesPDE5A
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)nsv4561563
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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