A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4222967



Internal ID20078966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:49786309..49786631hg38UCSC Ensembl
chr14:50253027..50253349hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15952713
Samples
Known GenesNEMF
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)nsv4222967
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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