A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4533394



Internal ID19916812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:53405646..53512646hg38UCSC Ensembl
chr19:53908899..54015900hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38107001
hg19107002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15846082
Samples
Known GenesTPM3P9, ZNF761, ZNF765, ZNF813
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 ID12345678
Accession Number(s)nsv4533394
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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