A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4067807



Internal ID20313343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149581740..149587941hg38UCSC Ensembl
chr1:148804000..148810000hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg386202
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15963281
Samples
Known GenesLOC101929780, PPIAL4D, PPIAL4E, PPIAL4F
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)nsv4067807
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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