A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4267479



Internal ID20109634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4339888..4577018hg38UCSC Ensembl
chr19:4339885..4577030hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38237131
hg19237146
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15962162
Samples
Known GenesCHAF1A, HDGFRP2, LRG1, MIR4746, MPND, PLIN4, PLIN5, SEMA6B, SH3GL1, UBXN6
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)nsv4267479
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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