A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4258109



Internal ID20449766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2839016..2842872hg38UCSC Ensembl
chr19:2839014..2842870hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg383857
hg193857
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15842356
Samples
Known GenesZNF555
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)nsv4258109
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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