A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4222707



Internal ID20078786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73872168..73948461hg38UCSC Ensembl
chr14:74338871..74415164hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3876294
hg1976294
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15956922
Samples
Known GenesFAM161B, PTGR2, ZNF410
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)nsv4222707
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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