A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4573872



Internal ID20303747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38215492..38215493hg38UCSC Ensembl
chr19:38706132..38706133hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381239
hg191239
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16022065
Samples
Known GenesDPF1
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)nsv4573872
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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