A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4245925



Internal ID20094748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:14543973..14772035hg38UCSC Ensembl
chr16:14637830..14865892hg19UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38228063
hg19228063
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15827219
Samples
Known GenesBFAR, NPIPA2, NPIPA3, PARN, PLA2G10
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)nsv4245925
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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