A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4047160



Internal ID20173808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39574592..39574693hg38UCSC Ensembl
chr1:40040264..40040365hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15960579
Samples
Known GenesPABPC4
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)nsv4047160
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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